Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.
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.
Oude Luttikhuis
H G M
HG
Service de Maladies du Metabolisme-Pédiatrie-Neurologie-Diabetologie-Endocrinologie, Hôpital Necker Enfants Malades, Paris, France. hiltje@gmail.com
Touati
G
G
Rabier
D
D
Williams
M
M
Jakobs
C
C
Saudubray
J M
JM
D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D044882:Glucose Metabolism Disorders / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007003:Hypoglycemia / Q000150:complications* / Q000209:etiology; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D012640:Seizures
D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase