title: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.
abstract: A girl, now three years old, is reported, in whom at the age of 5 months the diagnosis of 3-HMG-CoA lyase deficiency was established. The characteristic excretion pattern consisted of 3-HMG, 3-CH3-glutaconic acid, 3-CH3-glutaric acid and 3-HIVA. Activity of 3-HMG-CoA lyase in leucocytes was very low. She had compensated metabolic acidosis and mild hypoglycemia. Therapy with a leucine restricted diet decreased excretion of metabolites moderately but did not influence the tendency to metabolic acidosis. Clinically the infant presented with macrocephaly. At the age of 3 years she is severely retarded. CAT scan revealed the picture of progressive demyelination of the white matter.
mesh_terms: D000138:Acidosis / Q000201:enzymology*; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000201:enzymology; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology; D008607:Intellectual Disability / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D007652:Oxo-Acid-Lyases / Q000097:blood / Q000172:deficiency*; D012886:Skull / Q000002:abnormalities*
chemical_list: D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase