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- W2068442083 abstract "Two siblings were referred for workup for progressive neurological deterioration. The elder sibling was a 16- year-old boy who had been asymptomatic until 9 years of age when he developed walking difficulty that progressed to a bed-bound state followed by regression of cognitive function and generalized tonic clonic seizures. The younger sibling was a 14-year-old girl with onset of similar symptoms at the age of 6 years. The siblings were the eldest of 6 children from a family with no history of consanguinity. Both children principally ate a high-carbohydrate (maize)-based diet with sporadic access to fresh produce and animal protein. They had reached normal developmental milestones until the onset of symptoms. Both children had been treated unsuccessfully with sodium valproate. On examination, they demonstrated minimal communication skills and severe cognitive impairment. They had spastic paralysis of all extremities.Electroencephalography in the elder sibling revealed generalized, highly potentially epileptogenic foci, and a brain computed tomography scan demonstrated marked cerebral atrophy with minimal white matter. Initial laboratory investigations, including a complete blood count, measurement of electrolytes and urea, and thyroid and liver function tests, were all within reference intervals. Syphilis serology was negative. Screening for inherited metabolic diseases included measurements of plasma amino acids and urine organic acids. Selected laboratory results of the elder boy are provided in Table 1.View this table:Table 1. Selected laboratory results for the elder boy.### QUESTIONS TO CONSIDER1. What is the most common cause of a highly increased (>50 μmol/l) homocysteine?2. Which nutrient deficiencies are associated with increased homocysteine concentrations?3. What are the deleterious effects of increased plasma homocysteine concentrations?### HOMOCYSTEINEHomocysteine is a nonessential, non–protein-forming, thiol-containing amino acid that is readily oxidized in the blood to homocystine and other disulfides. Only 1% is found in its free reduced form. The single source of homocysteine in humans is the demethylation of the essential amino acid, methionine, via 2 intermediate compounds, …" @default.
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- W2068442083 date "2013-08-01" @default.
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- W2068442083 title "Teenaged Siblings with Progressive Neurocognitive Disease" @default.
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- W2068442083 doi "https://doi.org/10.1373/clinchem.2012.190710" @default.
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