Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.
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.
Engbers
H M
HM
Metabolic Diseases, Wilhelmina Children's Hospital, Lundlaan 6, Utrecht 3508AB, The Netherlands. hannelie_engbers@hotmail.com
Dorland
L
L
de Sain
M G M
MG
Eskes
P F
PF
Visser
G
G
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D001786:Blood Glucose / Q000378:metabolism*; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D005215:Fasting; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007003:Hypoglycemia / Q000150:complications / Q000175:diagnosis; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D012206:Rhabdomyolysis / Q000150:complications* / Q000175:diagnosis
D001786:Blood Glucose; C116917:acylcarnitine; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D005947:Glucose; D002331:Carnitine