3-Hydroxy-3-methyl glutaryl-CoA lyase deficiency (HMG CoA lyase deficiency)
Incidence
Two forms. Neonatal 0-5 days, and Infantile form 3-11 months. More than 90% of cases are from Middle East.
Clinical Characteristics
All forms show rapidly evolving \\\\\\\"acidotic coma\\\\\\\" which may lead to precipitous death.Metab. coma is character. by hypoglycemia & hyperlactic acidemia BUT NO KETONES.Half of cases have hyperammonemia and/or high liver enzymes.
Precipitants
Any child with this condition who refuses to eat or start vomiting is in danger of impending coma.
Provocation Tests
Leucine load and fasting precipitate an acidotic attack.
Diagnostic Procedures
EB-F, EB-W