[Infant coma in the emergency department: 2 cases of MCAD deficiency].
Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intestinal intussusception in its neurological form. Early recognition of MCAD and presymptomatic treatment of intercurrent illness improve the prognosis over the short- and long-term. MCAD deficiency satisfies the major criteria for newborn screening. We report the cases of 2 patients whose presentation was typical and severe. Early diagnosis of MCAD deficiency helped to start a simple treatment in both patients aimed at preventing further decompensation.
Hoflack
M
M
Service de pédiatrie, hôpital de l'Archet II, 151 route de Saint-Antoine-de-Ginestière, Nice cedex 3, France. hoflack.m@chu-nice.fr
Caruba
C
C
Pitelet
G
G
Haas
H
H
Mas
J-C
JC
Paquis
V
V
Berard
E
E
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D002331:Carnitine / Q000627:therapeutic use; D003128:Coma / Q000209:etiology*; D004636:Emergency Service, Hospital; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine