Rapid Diagnosis of Long Chain and Medium Chain Fatty Acid Oxidation Disorders Using Lymphocytes
- 1 March 1995
- journal article
- Published by SAGE Publications in Annals of Clinical Biochemistry: International Journal of Laboratory Medicine
- Vol. 32 (2) , 154-159
- https://doi.org/10.1177/000456329503200204
Abstract
A method based on the release of tritiated water from [9,10(n)-3H] palmitic and myristic acids previously described for fibroblasts, was adapted for lymphocytes for the rapid diagnosis of fatty acid oxidation disorders. Optimal concentrations for both substrates and linearity of the assay were established. Normal values were established in control subjects of different age groups (58 children and 117 adults) and 16 patients with known fatty acid oxidation disorders were tested. Tritiated water production from patients' lymphocytes was expressed as a ratio between residual oxidations of palmitate and myristate and the results show that this method allows good differentiation between long chain and medium chain fatty acid oxidation defects.Keywords
This publication has 11 references indexed in Scilit:
- Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.Journal of Clinical Investigation, 1993
- Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridationBiochemical and Biophysical Research Communications, 1992
- Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblastsJournal of Inherited Metabolic Disease, 1992
- Fatty acid β-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patientsBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1992
- Octanoate and palmitateβ‐oxidation in human leukocytes: Implications for the rapid diagnosis of fatty acidβ‐oxidation disordersJournal of Inherited Metabolic Disease, 1991
- 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
- Complementation analysis of fatty acid oxidation disorders.Journal of Clinical Investigation, 1987
- Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in OxidationPediatric Research, 1982
- A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindingAnalytical Biochemistry, 1976