Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts
- 17 June 1992
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (6), 883-890
- https://doi.org/10.1007/bf01800227
Abstract
Intact cultured fibroblasts from patients with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase release3H2O from [9,10-3H]myristic acid and [9,10-3H]palmitic acid more slowly than normal. The...Keywords
This publication has 18 references indexed in Scilit:
- Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondriaBiochemical and Biophysical Research Communications, 1992
- Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyThe Journal of Pediatrics, 1991
- Kinetic advantage of the interaction between the fatty acid β-oxidation enzymes and the complexes of the respiratory chainBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1991
- 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatmentEuropean Journal of Pediatrics, 1991
- Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ‐oxidationJournal of Inherited Metabolic Disease, 1990
- A comparison of [9,10‐3H]palmitic and [9,10‐3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblastsJournal of Inherited Metabolic Disease, 1989
- Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?Journal of Inherited Metabolic Disease, 1988
- 3-Hydroxydicarboxylic aciduria: A distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significanceJournal of Inherited Metabolic Disease, 1987
- The inborn errors of mitochondrial fatty acid oxidationJournal of Inherited Metabolic Disease, 1987
- The existence of an inner-membrane-bound, long acyl-chain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondriaBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1982