[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency].
One case of hypermethioninaemia discovered on systematic neonatal screening examination is reported. This metabolic disorder was associated with growth retardation, anorexia, digestive disturbances, and a strong smell of "boiled cabbage" in urine and sweat. With a 6-year follow up, psychomotor and growth developments were excellent under a low methionine containing diet, in spite of a persistent pathological hypermethioninaemia. A deficiency in S-adenosyl-methionine synthetase and an abnormal kinetics of this enzyme were found in a liver tissue sample obtained by biopsy. Otherwise, the excretion of alpha-keto-gamma-methyl-thiobutyric acid was increased with, however, no abnormality in the metabolism of folates. Finally, the probability of an autosomal recessive transmission is discussed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy / Q000201:enzymology*; D000855:Anorexia / Q000209:etiology; D005500:Follow-Up Studies; D005767:Gastrointestinal Diseases / Q000209:etiology; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000201:enzymology; D008297:Male; D008715:Methionine / Q000097:blood / Q000378:metabolism*; D008716:Methionine Adenosyltransferase / Q000172:deficiency*; D009812:Odorants; D013542:Sweat; D014166:Transferases / Q000172:deficiency*; D014556:Urine
D008715:Methionine; D014166:Transferases; D008716:Methionine Adenosyltransferase
Une nouvelle cause d'hyperméthioninémie de l'enfant: le deficit en S-adenosyl-méthionine-synthétase.