[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report].
We report a patient that presented two episodes of coma in the neonatal period, with severe metabolic acidosis and hypoglycemia, without ketosis. The urinary organic acid analysis showed increased amounts of 3-hydroxy-3-methyl-glutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acid. The deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase was diagnosed by the clinical and metabolic features. This disease shows autosomal recessive inheritance and the treatment is done by a diet with restriction of protein (mainly leucine) and lipids, high in carbohydrate content, and the avoidance of fasting and carnitine supplementation.
Casella
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EB
Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (FMUSP), Brasil. erasmobc-icr.hcnet.usp.br
Martins
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FR
Miura
I K
IK
Vieira
M A
MA
Porta
G
G
D003128:Coma / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D007652:Oxo-Acid-Lyases / Q000172:deficiency*
D007652:Oxo-Acid-Lyases; D007930:Leucine