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.

• Authors: D Leupold, M Bojasch, C Jakobs
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 138 Issue 1 Pg. 73-6 (Feb 1982) ISSN: 0340-6199 [Print] Germany
• PMID: 7075630 (Publication Type: Case Reports, Journal Article)

Chemical References

• Oxo-Acid-Lyases
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase

Topics

• Acidosis (enzymology)
• Child, Preschool
• Demyelinating Diseases (enzymology)
• Female
• Humans
• Hypoglycemia (enzymology)
• Intellectual Disability (enzymology)
• Leukocytes (enzymology)
• Oxo-Acid-Lyases (blood, deficiency)
• Skull (abnormalities)