Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

H G M Oude Luttikhuis; G Touati; D Rabier; M Williams; C Jakobs; J M Saudubray

doi:10.1007/s10545-005-4545-1

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

J Inherit Metab Dis. 2005;28(6):1136-8. doi: 10.1007/s10545-005-4545-1.

Authors

H G M Oude Luttikhuis¹, G Touati, D Rabier, M Williams, C Jakobs, J M Saudubray

Affiliation

¹ Service de Maladies du Metabolisme-Pédiatrie-Neurologie-Diabetologie-Endocrinologie, Hôpital Necker Enfants Malades, Paris, France. [email protected]

PMID: 16435207
DOI: 10.1007/s10545-005-4545-1

Abstract

Since the introduction of neonatal screening for branched-chain organic acidurias, it has been noted that isolated 3-methylcrotonyl-CoA carboxylase deficiency is probably one of the most frequent organic acidurias. Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life-threatening complication.

Publication types

Case Reports

MeSH terms

Carbon-Carbon Ligases / deficiency*
Glucose Metabolism Disorders / complications
Glucose Metabolism Disorders / diagnosis
Humans
Hypoglycemia / complications*
Hypoglycemia / etiology
Infant
Male
Metabolism, Inborn Errors / complications
Metabolism, Inborn Errors / diagnosis*
Seizures

Substances

Carbon-Carbon Ligases
methylcrotonoyl-CoA carboxylase