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• W2000413207 abstract "original articleIncidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 Hissa Moammar, George Cheriyan, Revi Mathew, and Nouriya Al-Sannaa Hissa Moammar Department of Pediatrics, King Faisal University, Dhahran, Saudi Arabia Search for more papers by this author , George Cheriyan Pediatric Services Division, Saudi Aramco-Dhahran Health Center, Dhahran, Saudi Arabia Search for more papers by this author , Revi Mathew Vanderbilt University, Tennessee, USA Search for more papers by this author , and Nouriya Al-Sannaa Pediatric Services Division, Saudi Aramco-Dhahran Health Center, Dhahran, Saudi Arabia Search for more papers by this author Published Online:5 Aug 2010https://doi.org/10.4103/0256-4947.65254SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutAbstractBACKGROUND AND OBJECTIVES: Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years.METHODS: The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders.RESULTS: During the study period, 165 530 Saudi Arabian infants were born at Saudi Aramco and 248 were diagnosed with an IEM, corresponding to a cumulative incidence of 150 cases per 100 000 live births. Small-molecule disorders were diagnosed in 134/248 patients (54%). OA were the most common (48/248 patients; 19%), and methylmalonic aciduria was the most frequently observed OA (13/48 patients; 27%). LSDs were diagnosed in 74/248 patients (30%), and mucopolysaccharidosis was the most frequently observed LSD (28/74; 38%).CONCLUSION: We believe that our data underestimate the true incidence of IEM in the region. Regional and national newborn screening programs will provide a better estimation of the incidence of IEM. We recommend a centralized newborn screening program that employs tandem mass spectrometry.IntroductionInborn errors of metabolism (IEM) can be classified according to the size of accumulated or deficient metabolites into small-molecule disorders such as aminoacidemia, organic acidopathies, urea cycle defect, galactosemia, fatty acid oxidation disorders, and other disorders such as glycogen and lysosomal storage and organelle diseases.1 Despite an increased understanding of their pathogenesis and prevalence, no uniform consensus on screening for these disorders has been established to date.2,3 Furthermore, the outcome of these disorders remains highly variable even with early diagnosis.In countries where consanguinity rates are high, offspring can inherit 1/4 to 1/8 of their genes from a common ancestor, leading to an increased incidence of inherited disorders. The inbreeding coefficient factor ranges from 0.00004 to 0.0008 in Canada and from 0.001 to 0.005 in the United States. It is higher in Southern Europe, Latin America, and Japan.4,5 In the eastern province of Saudi Arabia, consanguinity rates are as high as 40% among first cousins and up to 60% in intermarriages between relatives, with an inbreeding coefficient factor of 0.024.6–8 The incidence of IEM in this region of Saudi Arabia has not been defined. In order to determine the specific IEM present in this population, as well as their incidence, we reviewed the medical records of all Saudi Arabian patients with a confirmed diagnosis of IEM born from 1 January 1983 to 31 December 2008, within the Saudi Arabian American Oil Company (Saudi Aramco) medical facilities.METHODSSaudi Aramco provides comprehensive free healthcare for its 55 000 employees and their 370 000 dependents at several health care facilities and a major 400-bed tertiary care hospital in Dhahran. This review covers a 25-year period from 1 January 1983 to 31 December 2008.Birth CohortsThe data on Saudi Arabian infants born during the 25-year period were taken from the Mortality and Morbidity Reports 1983-2008, Epidemiology Services Unit, Preventive Medicine Services Division, Saudi Aramco Medical Services Organization (SAMSO)·9 During the study period, 165 530 live births were recorded, and 248 patients were diagnosed with various forms of metabolic diseases. These patients were diagnosed and followed-up in the main medical center at Dhahran.Apart from classic phenylketonuria, for which newborn screening was started in Saudi Aramco in 1980,10 the remaining patients were evaluated on the basis of their clinical manifestations and/or family history of either unexplained neonatal death or previously affected members. Almost all the parents of the affected patients were consanguineous. The number of affected children varied from one to nine per family, with a mean of two, which facilitated the selective screening of all siblings born to previously identified families with metabolic disease. Autopsies were not available for the deceased patients.Confirmation of DiagnosisThe initial biochemical investigations included analysis of quantitative plasma and cerebrospinal fluid amino acids, plasma acylcarnitine profiles, urine organic acids, oligosaccharidoses, and glycosaminoglycans. Plasma very long-chain fatty acids, phytanic, and pristanic acids were also assessed for the diagnosis of peroxisomal disorders. For urea cycle disorders, diagnosis was based on the presence of hyperammonemia and the typical plasma amino acids profiles. The diagnosis was confirmed by enzyme activity estimation on either cultured skin fibroblasts or in the blood of all patients with fatty acid oxidation disorders. Biotinidase deficiency and 3-methylcrotonyl aciduria were diagnosed by blood enzyme assay and skin biopsy, respectively. Tetrahydrobiopterin biosynthesis defects secondary to a pyruvoyl tetrahydrobiopterin synthase deficiency was diagnosed by measuring the level of neurotransmitters in the cerebrospinal fluid, followed by confirmation of the diagnosis by a mutation study. Three (3/6) patients with propionic aciduria, 11 patients (11/14) with methylmalonic aciduria, 1 patient (1/5) with tyrosinemia, and 1 patient (1/12) with maple syrup urine disease (MSUD) had their diagnoses confirmed by enzyme assay. The diagnosis of all glycogen and lysosomal storage disorders, apart from neuronal ceroid lipofuscinosis (NCL), was confirmed by enzyme activity estimation on cultured skin fibroblasts, liver biopsy, or leukocytes. Niemann-Pick disease was diagnosed by conventional filipin staining and the absence of cholesterol esterification in cultured skin fibroblasts in all patients.Genotyping identified all families with biopterin biosynthesis defect; tyrosinemia; short chain acyl-coenzyme A dehydrogenase (SCAD), carnitine palmitoyl transferase I (CPTI), carnitine palmitoyl transferase II (CPTII), 3-phosphoglycerate dehydrogenase (3PGD), and carbonic anhydrase II (CA II) deficiencies; carnitine uptake defect (CUD); galactosemia; mucopolysaccharidosis (MPS) I; Fabry disease; gangliosidosis (GMI); Niemann-Pick disease type C (NPC); and glycogen storage disease (GSD) type Ia and GSD type II.Mithochondrial DNA studies included multiplex polymerase chain reaction amplification of the relevant segments of the mitochondrial DNA genome followed by dot blot hybridization with allele-specific oligonucleotide probes to evaluate deletions or rearrangements. The entire mitochondrial DNA was not sequenced in these patients and specific targeted mutations of mitochondrial DNA need further study.The biochemical studies, including quantitative serum amino acid analysis, acylcarnitine profiles, carnitine and urine analyses for organic acids, oligosaccharides and glycosaminoglycans analyses, were carried out at the Bio-Sciences Laboratory, San Diego, California from 1983 to 1991 and the Mayo Clinic Laboratory, Rochester, Minnesota from 1991 to 2008. Enzyme activities were tested for lysosomal storage diseases at either Willink Biochemical Genetics Laboratories, Manchester, UK, or the Mayo Clinic Laboratory, Minneapolis, USA.All cases were reviewed for the following variables: gender, previous family history of IEM, diagnosis, outcome, and follow-up. Incidence was calculated by dividing the number of diagnosed cases by the number of total births during the study period. Disease-specific numbers per 100 000 were calculated by dividing the number of cases by the total population and multiplying by 100 000.11RESULTSOver the 25-year period of this retrospective study, 248 patients were diagnosed with 55 metabolic diseases. Tables 1 and 2 illustrate the distribution of patients diagnosed with small-molecule and other forms of IEM, respectively. The tables indicate the estimated incidence per 100 000 live births for each group of disorders.Table 1 Incidence data for disease categories. Small-molecule disorders of IEM in SAMSO (1983-2008). Total population of live births (165 130).Disease categoryNumbers of cases diagnosedNo. of families affectedIncidence rate/100 000 live birthsAminoacidopathies381823Classic homocystinuria432NK hyperglycinemia111Biopterin biosynthesis defect432Classic PKU1237Hepatorenal tyrosinemia513MSUD1277Organic acidopathies482929Propionic aciduria634Methyl malonic acidemiaCobalamin B deficiency935Mutase deficiency221Unknown332Isovaleric aciduria6343-Methylcrotonyl aciduria3222-Hydroxyglutaric aciduria845Glutaric aciduria type I322Multiple carboxylase deficiency231Biotinidase deficiency332Canavan disease312Urea cycle disorders1247Citrullinemia624Argininosuccinase deficiency624Fatty acid oxidation disorders18911SCAD deficiency422MCAD deficiency211LCHAD deficiency111CPT I deficiency211CPT II deficiency412CACT deficiency312Carnitine uptake defect221Carbohydrate disorders161010Galactosemia161010Serine deficiency2113 PGD deficiency211NK: nonketotic; PKU: phenylketonuria; MSUD: maple syrup urine disease; SCAD: small-chain acyl-coenzyme A dehydrogenase; MCAD: medium-chain acyl-coenzyme A dehydrogenase; LCHAD: long-chain 3-hydroxyacyl co-enzyme A dehydrogenase; CPT: carnitine palmitoyl transferase; CACT: carnitine-acylcarnitine translocase; PGD: phosphoglycerate dehydrogenase.Table 2 Incidence data for disease categories: glycogen storage, lysosome storage, mitochondrial, and other IEM disorders in SAMSO faciltities (total population of live births: 165 530.Disease categoryNumbers of cases diagnosedNo. of families affectedIncidence rate /100 000 live birthsGlycogen storage diseases171010 GSD type I A422 GSD type I B111 GSD type II312 GSD type III855Fanconi-Beckel syndrome111Lysosomal storage diseases744244Mucopolysaccharidosis MPS I624 MPS III322 MPS IV644 MPS VI1378Niemann-Pick A865Niemann-Pick C221Fabry disease915Sandhoff disease975NCL (Juvenile)955Gangliosidosis (GMI)422Galactosialidosis111Manosidosis211Wolman disease111Cystinosis111Organelle disorders18611Mitochondrial PDH Deficiency322Suspected mitochondrial disorders Leigh’s disease (undetermined enzyme)764 Congenital lactic acidemia442Peroxisomal Peroxisomal biosynthesis defect111 DHAPAT Deficiency111Dihyrdoacetone phophateacyltransferase deficiency (rhizomelic chondrodysplasia punctata type 2221Other disorders533 CA II deficiency322 DPD deficiency211All inborn errors of metabolism248142149NCL: neuronal ceroid lipofuscinosis; PDH: pyruvate dehydrogenase deficiency; CAII: carbonic anhydrase II; DPD: dihydropyrimidine dehydrogenase deficiency.Lysosomal storage disorders (LSDs) were the most frequently diagnosed family of IEM and were observed in 74/248 patients (30%). Mucopolysaccharidosis (MPS) constituted the largest subgroup of LSDs (28/74 patients; 38%), and MPS IV was the most prevalent type of MPS, observed in 13/28 patients. Organic acid disorders were the second largest IEM group, affecting 48/248 patients (20%). Methyl malonic aciduria (MMA) constituted the largest subgroup of patients with organic acidurias (14/48 patients), and the majority of MMA cases were secondary to cobalamin B deficiency (9/14 patients).Amino acid disorders were diagnosed in 38/248 patients (16%). Fatty acid oxidation disorders were diagnosed in 18/248 patients (7%) and were represented by different enzymes deficiencies. Genetic analysis for medium-chain acyl-coenzyme A dehydrogenase (MCAD) patients failed to identify the common mutation 985 A>G. Only 12/248 patients (5%) were diagnosed with urea cycle disorders.For patients with suspected mitochondrial disorders, the diagnosis of pyruvate dehydrogenase deficiency (PDH) with typical clinical manifestations of Leigh disease was confirmed in three patients by enzyme assay of cultured skin fibroblast. The mitochondrial respiratory chain enzyme study performed on these three patients was not conclusive, and none underwent a muscle biopsy or nuclear DNA mutation analysis. Mitochondrial DNA was normal in all of the patients tested. Two patients with a mitochondrial disorder were first double cousins from consanguineous families with more than one affected member. The third patient, who had a Saudi Arabian father and a Filipina mother, was confirmed to have an X-linked PDH-E-1a subunit deficiency.Ninety patients (90/248; 36%) were siblings of index cases. During the latter half of the study period, data on all families diagnosed with metabolic disease were available on a computer database. Table 3 provides a comparison of the major IEM defects observed in retrospective international population-based studies. The comparison of those reports with our study reveals a high incidence of IEM in our population, especially for LSDs, organic acidopathies, and aminoacidopathies.Table 3 Comparison of frequencies of IMD and categories of disorders found by retrospective population-based studies.ProgramSAMSO-DHCBritish Columbia 1Italy 20West Midlands 22Oman 21Study years1983-20081969-19961985-19971999-20036/1998-12/2006Population165 5301 142 9127 173 959310 51051 000No. of cases248173193539682General1:6671:25001:3703 (1:2 758)b1:7841:1555Aminoacidopathies1:43561:66061:36 3891:53541:6375Glycogen storage disease1:9737a1:69 054a1:19 5321:14 7861:7285Galactosemia1:10 3451:36 2001:50 316c1:16 3431:25 500Fatty acid oxidation disorder1:41 382NA1:91 5991:12 9381:7285Lyosomal storage diseases1:22361:13 1121:8 2751:5 1751:2318Urea cycle disordersa1:13 7941:53 7171:41 5061:22 1791:6375Organic acidopathies1:34481:27 0821:21 4221:79621:5666aTotal including Pompe disease;bIn last 5 years of study;cRegional Neonatal Screening.DISCUSSIONThe spectrum and incidence of metabolic disease in this retrospective study covers a well-defined population in the eastern province of Saudi Arabia. Currently, we selectively screen newborns in families with a known IEM disorder and initiate appropriate medical intervention. We provide genotype testing to identify the disease-causing mutations in affected families. Furthermore, we offer asymptomatic carrier testing and pre-natal genetic diagnosis for those families. Thus, the high incidence rate of disease we observed strongly supports the expansion of current newborn screening to include other IEM.Over 25 years, 248 patients with 55 different metabolic diseases were identified. Several case reports from Riyadh, Saudi Arabia, have indicated that certain diseases are confined to specific families and tribal groups. 12–22 Additionally, the frequency of metabolic disorders (1:667) in this retrospective series is not strictly comparable to studies based on neonatal screening results because those programs do not test for all the disorders analyzed in the present study. Nevertheless, it revealed an incidence of IEM higher than that reported in the literature.1,10–24In our series, LSDs comprised the most frequently occurring group of disorders, with an estimated combined incidence of 1:2236. LSDs were observed in 45/100 000 live births, or 31.3% of all IEM diagnoses. The frequency of LSD that we observed is much higher than that reported in Australia,25–27 British Columbia,1 Germany,19 Italy,20 West Midlands UK,22 the Netherlands,28 and the USA.23 Coelho et al29 also reported a high incidence of LSD (59.8%) in Brazilian patients referred for confirmation or exclusion of LSD. Specifically the incidence of MPS in our series, i.e. 16.9/100 000 live births (7%), is also much higher than that reported from other countries.1,9–21,30,31 MPS type VI was the most common type in our series, with an incidence of 7.8/100 000 births. Organic acidopathies were the most prevalent group of small-molecule disorders, with a higher incidence (1:3448) than that reported in Australia,18 British Columbia,1 Germany,19 Italy,20 Kuwait,24 Oman,21 West Midlands UK,22 and the USA,23 but lower than that reported from Riyadh, Saudi Arabia.17 In contrast, among the fatty acid oxidation (FAO) disorders, MCAD deficiency, one of the most commonly reported disorders in previous studies3,32–39 had a much lower incidence in this report (1:82 765). Similarly, Han et al reported a lower incidence of FAO disorders in a Chinese population in a 4-year retrospective review of clinically selected cases.40Galactosemia was identified in six Saudi couples between 1983 and 1994, as determined from SAMSO records from the eastern province of Saudi Arabia, with a corresponding incidence of 1:8500 live births.41 Although 3 of those families were lost during the follow-up, we still observed 16 patients with galactosemia from 10 families. The corresponding incidence of 1:10 345 live births remains higher than that reported in other countries.1,42–44Mitochondrial diseases represented a unique situation in our cohort in that none of our patients were identified to have mitochondrial DNA mutations, which is consistent with the autosomal recessive mode of inheritance and suggestive of nuclear rather than mitochondrial DNA mutation.45,46 Three patients were confirmed to have PDH deficiency on cultured skin fibroblasts. The remaining seven patients had typical clinical manifestations of Leigh disease with lactic acidosis and central nervous system changes. Mitochondrial respiratory studies were performed on cultured skin fibroblasts only and were unable to identify the underlying biochemical defects.Our data strongly justify the expansion of a newborn screening program to include treatable conditions such as LSD, organic acidopathies, aminoacidemia and galactosemia, with standardized protocols for evaluation and treatment of identified newborns. Along with genetic counseling, this will substantially enhance the quality of care provided to this group of patients. Newborn screening is one of the most successful public health programs to facilitate early detection and management of IEM as well as to prevent mortality and morbidity in affected children.47–50 We recommend a centralized, country-wide newborn screening program utilizing tandem mass spectrometry.51,52 A coordinated follow-up and treatment plan for the selective treatable disorders could be set up regionally, and genetic counseling made available to families where no intervention is currently possible.ARTICLE REFERENCES:1. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996 . Pediatr. 2000; 105:e10. Google Scholar2. Hoffmann GF. Selective screening for inborn errors of metabolism-past, present and future . Eur J Pediatr. 1994; 153:S2-8. Google Scholar3. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress . JAMA. 2003; 290:2564-72. Google Scholar4. Nussbaum RL, McInnes RR, Williard HF. In: Thompson , Thompson . AUTHOR: Book chapter title missing . Genetics in Medicine. 20046th ed. London: Saunders9-57. Google Scholar5. Bittles AH. The role and significance of consanguinity as a demographic variable . Popul Dev Rev. 1994; 20:561-84. Google Scholar6. El-Hazmi MA, Warsy A. Genetic disorders among Arab populations . Saudi Med J. 1996; 17:108-23. Google Scholar7. el-Hazmi MA, al-Swailem AR, Warsy AS, al-Swailem AM, Sulaimani R, al-Meshari AA. Consanguinity among the Saudi Arabian population . J Med Genet. 1995; 32:623-6. Google Scholar8. Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world . BMJ. 2006; 333:831-4. Google Scholar9. SAMSO Mortality and Morbidity Reports 1983-2008 . Epidemiology Services Unit, Preventive Medicine Services Division, SAMSO, Saudi Aramco Oil Company. Google Scholar10. Abu-Osba YK, Mallouh A, Salamah M, Hann R, Thalji A, Hamdan J, et al. Comprehensive newborn screening program: Aramco experience, the national need and recommendations . Ann Saudi Med. 1992; 12:235-40. Google Scholar11. Thomas DC. Statistical methods in genetic epidemiology . 2004New York: Oxford University Press61-95. Google Scholar12. Ozand PT, Gascon G, al Aqeel A, Roberts G, Dhalla M, Subramanyam SB. Prevalence of different types of lysosomal storage diseases in Saudi Arabia . J Inherit Metab Dis. 1990; 13:849-61. Google Scholar13. Ozand PT, Devol EB, Gascon GG. Neurometabolic diseases at a national referral center: Five years experience at the King Faisal specialist hospital and research center . J Child Neurol. 1992; S7:4-11. Google Scholar14. Dabbagh O, Brismar J, Gascon GG, Ozand PT. The clinical spectrum of biotin treatable encephalopathies in Saudi Arabia . Brain Dev. 1994; S16:72-80. Google Scholar15. Rashed M, Ozand PT, al Aqeel A, Gascon GG. Experience of King Faisal specialist hospital and research center with Saudi organic acid disorders . Brain Dev. 1994; S16:1-6. Google Scholar16. Ozand PT, Devol EB, Gascon GG. Neurometabolic diseases at a national referral center.: Five years experience at the King Faisal specialist hospital and research center . J Child Neurol. 1992; S7:4-11. Google Scholar17. Ozand PT. Diagnosis of inborn errors of metabolism by tandem mass spectrometry . Ann Saudi Med. 1998; 18:234-8. Google Scholar18. Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry . N Engl J Med. 2003; 348:2304-12. Google Scholar19. Schulze A, Lindner M, Kohlmüller D, Olgemüller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications . Pediatrics. 2003; 111:1399-406. Google Scholar20. Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, et al. Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey . J Pediatr. 2002; 140:321-7. Google Scholar21. Joshi SN, Hashim J, Venugopalan P. Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula . Ann Trop Paediatr. 2002; 22:93-6. Google Scholar22. Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK . Arch Dis Child. 2006; 91:896-9. Google Scholar23. Chace DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism . Annu Rev Genomics Hum Genet. 2002; 3:17-45. Google Scholar24. Abdel-Hamid M, Tisocki K, Sharaf L, Ramadan D. Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti Infants . Med Princ Pract. 2007; 16:215-21. Google Scholar25. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders . JAMA. 1999; 281:249-54. Google Scholar26. Meikle PJ, Hopwood JJ. Lysosomal storage disorders: Emerging therapeutic options require early diagnosis . Eur J Pediatr. 2003; 162:S34-7. Google Scholar27. Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, et al. Newborn screening for lysosomal storage disorders . Mol Genet Metab. 2006; 88:307-14. Google Scholar28. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands . Hum Genet. 1999; 105:151-6. Google Scholar29. Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism . Eur J Pediatr. 1997; 156:650-4. Google Scholar30. Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK . Orphanet J Rare Dis. 2008; 3:24. Google Scholar31. Malm G, Lund AM, Månsson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: Incidence and prevalence . Acta Paediatr. 2008; 97:1577-81. Google Scholar32. Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Black C, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study . Lancet. 2007; 369:37-42. Google Scholar33. Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies . Arch Dis Child Fetal Neonatal Ed. 2001; 85:F105-9. Google Scholar34. Horvath GA, Davidson AG, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, et al. Newborn screening for MCAD deficiency: Experience of the first three years in British Columbia, Canada . Can J Public Health. 2008; 99:276-80. Google Scholar35. van der Hilst CS, Derks TG, Reijngoud DJ, Smit GP, TenVergert EM. Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: The homogeneous population of The Netherlands . J Pediatr. 2007; 151:115-20120.e1-3. Google Scholar36. Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, et al. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency . J Inherit Metab Dis. 2008; 31:88-96. Google Scholar37. Venditti LN, Venditti CP, Berry GT, Kaplan PB, Kaye EM, Glick H, et al. Newborn screening by tandem mass spectrometry for medium-chain cayl-CoA dehydrogenase deficiency: A cost-effectiveness analysis . Pediatrics. 2003; 112:1005-15. Google Scholar38. Ziadeh R, Hoffman EP, Finegold DN, Hoop RC, Brackett JC, Strauss AW, et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies . Pediatr Res. 1995; 37:675-8. Google Scholar39. Rhead WJ. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective . J Inherit Metab Dis. 2006; 29:370-7. Google Scholar40. Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report . J Inherit Metab Dis. 2007; 30:507-14. Google Scholar41. Moammar H, Ratard R, Cheriyan G, Mathew P. Incidence and features of galactosemia in Saudi Arabs . J Inherit Metab Dis. 1996; 19:331-4. Google Scholar42. Mathias D, Bickel H. Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany . Eur J Pediatr. 1986; 145:310-2. Google Scholar43. Aoki K. Long term follow-up of patients with inborn errors of metabolism detected by the newborn screening program in Japan . Southeast Asian J Trop Med Public Health. 2003; 34:19-23. Google Scholar44. Raghuveer TS, Garg U, Graf WD. Inborn errors of metabolism in infancy and early childhood: An update . Am Fam Physician. 2006; 73:1981-90. Google Scholar45. Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities . Ann Neurol. 2001; 49:377-83. Google Scholar46. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease . Pediatrics. 2004; 114:925-31. Google Scholar47. Levy HL, Cornier AS. Current approaches to genetic metabolic screening in newborns . Curr Opin Pediatr. 1994; 6:707-11. Google Scholar48. Marsden D, Larson C, Levy HL. Newborn screening for metabolic disorders . J Pediatr. 2006; 148:577-84. Google Scholar49. Fletcher JM. Screening for lysosomal storage disorders--: A clinical perspective . J Inherit Metab Dis. 2006; 29:405-8. Google Scholar50. Afifi AM, Abdul-Jabbar MA. Saudi newborn screening.: A national public health program: Needs, costs, and challenges . Saudi Med J. 2007; 28:1167-70. Google Scholar51. Watson AS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR. Newborn screening: Toward a uniform panel and system.: Executive summary . Genet Med. 2006; 8:S1-11. Google Scholar52. Al-Odaib AN, Abu-Amero KK, Ozand PT, Al-Hellani AM. A new era for preventive genetic programs in the Arabian Peninsula . Saudi Med J. 2003; 24:1168-75. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 30, Issue 4Jul–Aug 2010 Metrics History Accepted1 March 2010Published online5 August 2010 AcknowledgementsThe authors acknowledge the use of Saudi Aramco Medical Services Organization (SAMSO) facilities for the research data utilized in this manuscript. Opinions expressed in this article are those of the authors and not necessarily those of SAMSO.InformationCopyright © 2010, Annals of Saudi MedicineThis is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.PDF download" @default.
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• W2000413207 title "Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008" @default.
• W2000413207 cites W1903184423 @default.
• W2000413207 cites W1965813757 @default.
• W2000413207 cites W1967355953 @default.
• W2000413207 cites W1974575488 @default.
• W2000413207 cites W1978469342 @default.
• W2000413207 cites W1982041629 @default.
• W2000413207 cites W1989537294 @default.
• W2000413207 cites W1993269816 @default.
• W2000413207 cites W1997806701 @default.
• W2000413207 cites W2000448133 @default.
• W2000413207 cites W2003160328 @default.
• W2000413207 cites W2004235323 @default.
• W2000413207 cites W2005989543 @default.
• W2000413207 cites W2011387232 @default.
• W2000413207 cites W2015880945 @default.
• W2000413207 cites W2025068265 @default.
• W2000413207 cites W2037487329 @default.
• W2000413207 cites W2041472617 @default.
• W2000413207 cites W2047300365 @default.
• W2000413207 cites W2047715916 @default.
• W2000413207 cites W2050180123 @default.
• W2000413207 cites W2057110063 @default.
• W2000413207 cites W2059282884 @default.
• W2000413207 cites W2064599119 @default.
• W2000413207 cites W2071605024 @default.
• W2000413207 cites W2084198184 @default.
• W2000413207 cites W2090001196 @default.
• W2000413207 cites W2092169518 @default.
• W2000413207 cites W2093722439 @default.
• W2000413207 cites W2094355363 @default.
• W2000413207 cites W2097370116 @default.
• W2000413207 cites W2105688742 @default.
• W2000413207 cites W2108639749 @default.
• W2000413207 cites W2111875392 @default.
• W2000413207 cites W2142137469 @default.
• W2000413207 cites W2142626085 @default.
• W2000413207 cites W2142742590 @default.
• W2000413207 cites W2145779689 @default.
• W2000413207 cites W2167992806 @default.
• W2000413207 cites W2170438622 @default.
• W2000413207 cites W2182837872 @default.
• W2000413207 cites W2409601992 @default.
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