FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2137566647> ?p ?o ?g. }

• W2137566647 abstract "Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea). Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty), generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma) and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency). GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib). Mutations in the genes G6PC (17q21) and SLC37A4 (11q23) respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most commonly confirmed by G6PC (GSDIa) or SLC37A4 (GSDIb) gene analysis, and the indications of liver biopsy to measure G6P activity are getting rarer and rarer. Differential diagnoses include the other GSDs, in particular type III (see this term). However, in GSDIII, glycemia and lactacidemia are high after a meal and low after a fast period (often with a later occurrence than that of type I). Primary liver tumors and Pepper syndrome (hepatic metastases of neuroblastoma) may be evoked but are easily ruled out through clinical and ultrasound data. Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villous cells. Pre-implantatory genetic diagnosis may also be discussed. Genetic counseling should be offered to patients and their families. The dietary treatment aims at avoiding hypoglycemia (frequent meals, nocturnal enteral feeding through a nasogastric tube, and later oral addition of uncooked starch) and acidosis (restricted fructose and galactose intake). Liver transplantation, performed on the basis of poor metabolic control and/or hepatocarcinoma, corrects hypoglycemia, but renal involvement may continue to progress and neutropenia is not always corrected in type Ib. Kidney transplantation can be performed in case of severe renal insufficiency. Combined liver-kidney grafts have been performed in a few cases. Prognosis is usually good: late hepatic and renal complications may occur, however, with adapted management, patients have almost normal life span. DISEASE NAME AND SYNONYMS: Glucose-6-phosphatase deficiency or G6P deficiency or glycogen storage disease type I or GSDI or type I glycogenosis or Von Gierke disease or Hepatorenal glycogenosis." @default.
• W2137566647 created "2016-06-24" @default.
• W2137566647 creator A5003332243 @default.
• W2137566647 creator A5023447619 @default.
• W2137566647 creator A5027870465 @default.
• W2137566647 creator A5029687908 @default.
• W2137566647 creator A5038346732 @default.
• W2137566647 creator A5052849443 @default.
• W2137566647 creator A5059330878 @default.
• W2137566647 creator A5061054265 @default.
• W2137566647 creator A5076398153 @default.
• W2137566647 date "2011-05-20" @default.
• W2137566647 modified "2023-10-03" @default.
• W2137566647 title "Glucose-6-phosphatase deficiency" @default.
• W2137566647 cites W1488262215 @default.
• W2137566647 cites W1488652381 @default.
• W2137566647 cites W1507867204 @default.
• W2137566647 cites W1526998224 @default.
• W2137566647 cites W1542231702 @default.
• W2137566647 cites W1972328777 @default.
• W2137566647 cites W1973300942 @default.
• W2137566647 cites W1976674774 @default.
• W2137566647 cites W1977522157 @default.
• W2137566647 cites W1979716134 @default.
• W2137566647 cites W1980992321 @default.
• W2137566647 cites W1982548908 @default.
• W2137566647 cites W1983292214 @default.
• W2137566647 cites W1983595761 @default.
• W2137566647 cites W1983800298 @default.
• W2137566647 cites W1984333104 @default.
• W2137566647 cites W1989491629 @default.
• W2137566647 cites W1991473633 @default.
• W2137566647 cites W1991562118 @default.
• W2137566647 cites W1991789393 @default.
• W2137566647 cites W1993398288 @default.
• W2137566647 cites W1997348957 @default.
• W2137566647 cites W2001479779 @default.
• W2137566647 cites W2002233273 @default.
• W2137566647 cites W2004627301 @default.
• W2137566647 cites W2006223438 @default.
• W2137566647 cites W2006519126 @default.
• W2137566647 cites W2007622343 @default.
• W2137566647 cites W2011283490 @default.
• W2137566647 cites W2012272165 @default.
• W2137566647 cites W2018233054 @default.
• W2137566647 cites W2019445975 @default.
• W2137566647 cites W2019695092 @default.
• W2137566647 cites W2022826112 @default.
• W2137566647 cites W2023816266 @default.
• W2137566647 cites W2024279231 @default.
• W2137566647 cites W2024965515 @default.
• W2137566647 cites W2027156539 @default.
• W2137566647 cites W2031783979 @default.
• W2137566647 cites W2036616293 @default.
• W2137566647 cites W2038361993 @default.
• W2137566647 cites W2038532989 @default.
• W2137566647 cites W2039377614 @default.
• W2137566647 cites W2039811582 @default.
• W2137566647 cites W2040104922 @default.
• W2137566647 cites W2049287225 @default.
• W2137566647 cites W2052468015 @default.
• W2137566647 cites W2052905641 @default.
• W2137566647 cites W2054126959 @default.
• W2137566647 cites W2054956977 @default.
• W2137566647 cites W2056852317 @default.
• W2137566647 cites W2057111254 @default.
• W2137566647 cites W2057520442 @default.
• W2137566647 cites W2057646882 @default.
• W2137566647 cites W2062634860 @default.
• W2137566647 cites W2069749743 @default.
• W2137566647 cites W2072835040 @default.
• W2137566647 cites W2073816425 @default.
• W2137566647 cites W2074367767 @default.
• W2137566647 cites W2075797317 @default.
• W2137566647 cites W2078156067 @default.
• W2137566647 cites W2079331288 @default.
• W2137566647 cites W2080989680 @default.
• W2137566647 cites W2081983895 @default.
• W2137566647 cites W2085139931 @default.
• W2137566647 cites W2085779333 @default.
• W2137566647 cites W2087042626 @default.
• W2137566647 cites W2089703149 @default.
• W2137566647 cites W2091788799 @default.
• W2137566647 cites W2091942472 @default.
• W2137566647 cites W2093142478 @default.
• W2137566647 cites W2093803212 @default.
• W2137566647 cites W2095507506 @default.
• W2137566647 cites W2097496752 @default.
• W2137566647 cites W2102790104 @default.
• W2137566647 cites W2103033835 @default.
• W2137566647 cites W2105002491 @default.
• W2137566647 cites W2107429509 @default.
• W2137566647 cites W2111668124 @default.
• W2137566647 cites W2112672158 @default.
• W2137566647 cites W2114442866 @default.
• W2137566647 cites W2127930088 @default.
• W2137566647 cites W2135131310 @default.
• W2137566647 cites W2146641771 @default.
• W2137566647 cites W2147031803 @default.
• W2137566647 cites W2149562376 @default.

• next