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• W1966952656 abstract "Abstract Summary: We report studies of a Greek boy of gypsy origin that show that he has severe deficiency of glycine N ‐methyltransferase (GNMT) activity due to apparent homozygosity for a novel mutation in the gene encoding this enzyme that changes asparagine‐140 to serine. At age 2 years he was found to have mildly elevated serum liver transaminases that have persisted to his present age of 5 years. At age 4 years, hypermethioninaemia was discovered. Plasma methionine concentrations have ranged from 508 to 1049 µmol/L. Several known causes of hypermethioninaemia were ruled out by studies of plasma metabolites: tyrosinaemia type I by a normal plasma tyrosine and urine succinylacetone; cystathionine β‐synthase deficiency by total homocysteine of 9.4–12.1 µmol/L; methionine adenosyltransferase I/III deficiency by S ‐adenosylmethionine (AdoMet) levels elevated to 1643–2222 nmol/L; and S ‐adenosylhomocysteine (AdoHcy) hydrolase deficiency by normal AdoHcy levels. A normal plasma N ‐methylglycine concentration in spite of elevated AdoMet strongly suggested GNMT deficiency. Molecular genetic studies identified a missense mutation in the coding region of the boy's GNMT gene, which, upon expression, retained only barely detectable catalytic activity. The mild hepatitis‐like manifestations in this boy are similar to those in the only two previously reported children with GNMT deficiency, strengthening the likelihood of a causative association. Although his deficiency of GNMT activity may well be more extreme, his metabolic abnormalities are not strikingly greater. Also discussed is the metabolic role of GNMT; several additional metabolite abnormalities found in these patients; and remaining questions about human GNMT deficiency, such as the long‐term prognosis, whether other individuals with this defect are currently going undetected, and means to search for such persons." @default.
• W1966952656 created "2016-06-24" @default.
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• W1966952656 date "2003-12-01" @default.
• W1966952656 modified "2023-10-16" @default.
• W1966952656 title "Glycine<i>N</i>-methyltransferase deficiency: A new patient with a novel mutation" @default.
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• W1966952656 doi "https://doi.org/10.1023/b:boli.0000009978.17777.33" @default.
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