Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Medium-chain acyl-coenzyme A dehydrogenase deficiency is an autosomal recessive disorder of beta-oxidation of fatty acids manifested by episodic hypoglycemia, encephalopathy, apnea, and sudden death. Medical data were obtained on 120 patients with medium-chain acyl-coenzyme A dehydrogenase deficiency referred to Duke University Medical Center for biochemical testing. There were 55 male and 65 female subjects ranging from birth to 19 years of age; 118 subjects were white. Twenty-three children (19%) died before the diagnosis was made. Follow-up data were available in the 97 surviving patients for an average of 2.6 years after diagnosis. Psychodevelopmental data were collected on 73 patients older than 2 years of age. Unexpected morbidity included developmental and behavioral disability, chronic muscle weakness, failure to thrive, and cerebral palsy. We conclude that unidentified patients with this disorder have a significant risk of sudden death in early childhood and that survivors have a significant risk of developmental disability and chronic somatic illness.
Iafolla
A K
AK
Division of Genetics and Metabolism, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
Thompson
R J
RJ
Roe
C R
CR
D042964:Acyl-CoA Dehydrogenase; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005183:Failure to Thrive / Q000209:etiology; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics / Q000401:mortality; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology; D012189:Retrospective Studies; D012640:Seizures / Q000209:etiology
D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase