Hyperglycinaemia without ketosis.
When screening mentally backward children we detected a 5-year-old child with elevated urinary glycine excretion and a high blood glycine level. The report discusses the results of a clinical, metabolic and genetic examination of the child and the members of his family with reference to this rare metabolic disorder.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D000596:Amino Acids / Q000378:metabolism; D002675:Child, Preschool; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D007662:Ketosis; D008297:Male
D000596:Amino Acids; D005998:Glycine