Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting

H M Engbers; L Dorland; M G M de Sain; P F Eskes; G Visser

doi:10.1007/s10545-005-0190-y

Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting

J Inherit Metab Dis. 2005;28(6):1151-2. doi: 10.1007/s10545-005-0190-y.

Authors

H M Engbers¹, L Dorland, M G M de Sain, P F Eskes, G Visser

Affiliation

¹ Metabolic Diseases, Wilhelmina Children's Hospital, Lundlaan 6, Utrecht 3508AB, The Netherlands. hannelie_engbers@hotmail.com

PMID: 16435213
DOI: 10.1007/s10545-005-0190-y

Abstract

A patient with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency presented in the neonatal period with hypoketotic hypoglycaemia and at the age of 1 year with rhabdomyolysis and normal glucose after fasting. Rhabdomyolysis may occur in the absence of hypoglycaemia in young infants as well as in older patients.

Publication types

Case Reports

MeSH terms

Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
Blood Glucose / metabolism*
Carnitine / analogs & derivatives
Carnitine / blood
Fasting
Glucose / metabolism
Humans
Hypoglycemia / complications
Hypoglycemia / diagnosis
Infant
Metabolism, Inborn Errors / complications*
Metabolism, Inborn Errors / diagnosis
Rhabdomyolysis / complications*
Rhabdomyolysis / diagnosis

Substances

Blood Glucose
acylcarnitine
Acyl-CoA Dehydrogenase, Long-Chain
Glucose
Carnitine