| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
|
|
|
|
|||||||||||||
|
|
|||||||||||||||
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.
This article has been cited by other articles:
|
|
 |
|
  P. H. Arn Newborn Screening: Current Status Health Aff., March 1, 2007; 26(2): 559 - 566. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. I. Kaye and and the Committee on Genetics Newborn Screening Fact Sheets Pediatrics, September 1, 2006; 118(3): e934 - e963. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. J. Schoen, J. C. Baker, C. J. Colby, and T. T. To Cost-Benefit Analysis of Universal Tandem Mass Spectrometry for Newborn Screening Pediatrics, October 1, 2002; 110(4): 781 - 786. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D A C Elliman, C Dezateux, and H E Bedford Newborn and childhood screening programmes: criteria, evidence, and current policy Arch. Dis. Child., July 1, 2002; 87(1): 6 - 9. [Full Text] [PDF]
|
|
|
|
 |
|
 J. V Leonard and C. Dezateux Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry BMJ, January 5, 2002; 324(7328): 4 - 5. [Full Text] [PDF]
|
|
|
|
|
|
, , , , , , , , and Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been BMJ, January 13, 2001; 322(7278): 112 - 112. [Full Text]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
| ARCH DIS CHILD | FETAL NEONATAL ED | ED PRACTICE |
