6533b871fe1ef96bd12d11d8
RESEARCH PRODUCT
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder
L. IjlistStefan WirthRonald J.a. WandersH. MünterferingAdrian C. SewellS. W. Bendersubject
Malemedicine.medical_specialtyCardiomyopathyLipid Metabolism Inborn ErrorsFatal OutcomeInternal medicineCarnitineMedicineHumansBeta oxidationchemistry.chemical_classificationCultured skinbusiness.industryLiver DiseasesInfant Newborn3-Hydroxyacyl CoA DehydrogenasesMitochondrial MyopathiesClinical Enzyme Testsmedicine.diseaseDehydrogenase deficiencyHypoglycemiaEnzymeEndocrinologychemistrySecondary carnitine deficiencyPediatrics Perinatology and Child HealthDifferential diagnosisbusinessCardiomyopathiesLong-Chain-3-Hydroxyacyl-CoA Dehydrogenasedescription
3-Hydroxyacyl-CoA dehydrogenase deficiency is a newly recognised fatty acid oxidation disorder with a usually fatal outcome. We present a further patient who presented with hypoketotic hypoglycaemia, hepatopathy, secondary carnitine deficiency and increased plasma long-chain acylcarnitines. 3-Hydroxydicarboxylic aciduria was present and the diagnosis confirmed in cultured skin fibroblasts. Our patient is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and possible therapeutic regimens.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1994-10-01 | European journal of pediatrics |