title: Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.
abstract: BACKGROUND
  Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Undiagnosed, it has a mortality rate of 20-25%. Neonatal screening for the disorder is now possible but it is not known whether this would alter the prognosis.
  
  
  OBJECTIVE
  To investigate the outcome of MCAD deficiency after the diagnosis has been established.
  
  
  METHODS
  All patients with a proved diagnosis of MCAD deficiency attending one centre in a four year period were reviewed.
  
  
  RESULTS
  Forty one patients were identified. Follow up was for a median of 6.7 years (range, 9 months to 14 years). Nearly half of the patients were admitted to hospital with symptoms characteristic of MCAD deficiency before the correct diagnosis was made. After diagnosis, two patients were admitted to hospital with severe encephalopathy but there were no additional deaths or appreciable morbidity. There was a high incidence (about one fifth) of previous sibling deaths among the cohort.
  
  
  CONCLUSIONS
  Undiagnosed, MCAD deficiency results in considerable mortality and morbidity. However, current management improves outcome, supporting the view that the disorder should be included in newborn screening programmes.
authors: Metabolic Unit, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK. callumjwilson@yahoo.com
authors: C J
authors: CJ
authors: Wilson
authors: M P
authors: MP
authors: Champion
authors: J E
authors: JE
authors: Collins
authors: P T
authors: PT
authors: Clayton
authors: J V
authors: JV
authors: Leonard
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D002675:Child, Preschool; D003072:Cognition Disorders / Q000209:etiology; D005500:Follow-Up Studies; D006760:Hospitalization; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000523:psychology / Q000628:therapy; D015997:Neonatal Screening; D011379:Prognosis; D011446:Prospective Studies
chemical_list: D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase