Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
a Metabolic Unit,
Great Ormond Street Hospital for Children, Great Ormond Street, London
WC1N 3JH, UK, b Biochemistry, Endocrinology and
Metabolism Unit, Institute of Child Health, London, UK
Correspondence to: Dr Wilson. email: callumjwilson{at}yahoo.com
Accepted 22 December 1998
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.
OBJECTIVETo
investigate the outcome of MCAD deficiency after the diagnosis has been established.
METHODAll
patients with a proved diagnosis of MCAD deficiency attending one
centre in a four year period were reviewed.
RESULTSForty 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.
CONCLUSIONSUndiagnosed,
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.
Keywords: medium chain acyl-CoA dehydrogenase deficiency; outcome; screening; carnitine; inborn errors of metabolism
© 1999 by Archives of Disease in Childhood
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