Medium-chain acyl-CoA dehydrogenase deficiency: a case presentation.
When an infant presents with hypoglycemia, acidosis, hepatomegaly, and respiratory arrest, the neonatal team must be alert to the possibility of a metabolic disorder. Among those to be considered is medium-chain acyl-CoA dehydrogenase deficiency, which occurs in 1 in 10,000-23,000 live births. Recognizing and treating this disorder early could decrease the morbidity and mortality associated with the diagnosis.
Moore
Darlene J
DJ
Emory University, Department of Pediatrics, Atlanta, GA 30365, USA. djmoore67@bellsouth.net
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D002331:Carnitine / Q000627:therapeutic use; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology* / Q000628:therapy; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D008297:Male; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine