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 disor der. Heterozygous carriers did not present with biochemical abnormalities when challenged by fasting.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health