1.
J Pediatr
; 137(2): 257-9, 2000 Aug.
Article
in English
| MEDLINE
| ID: mdl-10931422
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.