Literature DB >> 1447668

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.

K C Leung1, J W Hammond, S Chabra, K H Carpenter, M Potter, B Wilcken.   

Abstract

A term neonate became lethargic and hypotonic at 46 hours of age and died 10 hours later despite supportive therapy. Urinary organic acids indicated medium-chain acyl-coenzyme A dehydrogenase deficiency, and DNA studies confirmed this disorder. Neonatal symptoms in this enzyme deficiency have rarely been reported, and recent reviews have ignored or discounted this presentation.

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Year:  1992        PMID： 1447668     DOI： 10.1016/s0022-3476(05)80353-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  4 in total

1.  Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Authors:  B Wilcken; K H Carpenter; J Hammond
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

2.  Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.

Authors:  J M Penzien; G Molz; U N Wiesmann; J P Colombo; R Bühlmann; B Wermuth
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

3.  A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

Authors:  J C Brackett; H F Sims; R D Steiner; M Nunge; E M Zimmerman; B deMartinville; P Rinaldo; R Slaugh; A W Strauss
Journal:  J Clin Invest       Date:  1994-10       Impact factor: 14.808

4.  Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.

Authors:  B Wilcken; J Hammond; M Silink
Journal:  Arch Dis Child       Date:  1994-05       Impact factor: 3.791
  4 in total

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