Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis.
Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.
D000138:Acidosis / Q000209:etiology*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D000596:Amino Acids / Q000652:urine; D002951:Citrates / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D003065:Coenzyme A; D003404:Creatinine / Q000652:urine; D003437:Crotonates / Q000652:urine; D005971:Glutamates / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D005973:Glutamine / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007657:Ketone Bodies / Q000652:urine; D007662:Ketosis / Q000209:etiology*; D008025:Ligases / Q000172:deficiency*; D008297:Male; D011422:Propionates / Q000097:blood* / Q000652:urine; D011761:Pyrrolidonecarboxylic Acid / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine
D000596:Amino Acids; D002951:Citrates; D003437:Crotonates; D005971:Glutamates; D007657:Ketone Bodies; D011422:Propionates; D005973:Glutamine; D003404:Creatinine; D008025:Ligases; D003065:Coenzyme A; D011761:Pyrrolidonecarboxylic Acid; D005998:Glycine