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J Pediatr. 2000 Aug;137(2):257-9.

Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.

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  • 1Biochemical Genetics, Montreal Children's Hospital, Montreal, Quebec, Canada.

Abstract

We describe a case of liver-specific short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown in family members, illustrating the recessive nature of this new disorder. Heterozygous carriers did not present with biochemical abnormalities when challenged by fasting.

PMID:
10931422
[PubMed - indexed for MEDLINE]
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