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Literature DB >> 9728341

Compromised fatty acid oxidation in mitochondrial disorders.

Abstract

Measurement of palmitate oxidation by the tritium release method in cultured fibroblasts or in lymphocytes detects patients with mitochondrial beta-oxidation disorders and in addition many patients with dysfunction of the respiratory chain. The clinical presentation and studies of metabolite levels in serum and urine are valuable in the differential diagnosis between these two groups of disorders.

Entities: Chemical Disease Species

Mesh：

Substances：
Fatty Acids

Year: 1998 PMID： 9728341 DOI： 10.1023/a:1005431424744

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

8 in total

1. 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 fibroblasts.

Authors: N J Manning; S E Olpin; R J Pollitt; J Webley
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

2. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.

Authors: F M Santorelli; S C Mak; M E Vazquez-Memije; S Shanske; P Kranz-Eble; K D Jain; D L Bluestone; D C De Vivo; S DiMauro
Journal: Pediatr Res Date: 1996-05 Impact factor: 3.756

3. Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

Authors: E Mayatepek; R J Wanders; M Becker; H J Bremer; G F Hoffmann
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

4. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

Authors: N J Watmough; L A Bindoff; M A Birch-Machin; S Jackson; K Bartlett; C I Ragan; J Poulton; R M Gardiner; H S Sherratt; D M Turnbull
Journal: J Clin Invest Date: 1990-01 Impact factor: 14.808

5. Complementation analysis of fatty acid oxidation disorders.

Authors: A Moon; W J Rhead
Journal: J Clin Invest Date: 1987-01 Impact factor: 14.808

6. Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.

Authors: N Venizelos; U von Döbeln; L Hagenfeldt
Journal: J Inherit Metab Dis Date: 1998-06 Impact factor: 4.982

7. Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes.

Authors: M Brivet; A Slama; J M Saudubray; A Legrand; A Lemonnier
Journal: Ann Clin Biochem Date: 1995-03 Impact factor: 2.057

8. Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors: M J Bennett; M J Weinberger; W G Sherwood; A B Burlina
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

8 in total

4 in total

Compromised fatty acid oxidation in mitochondrial disorders.

1. 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 fibroblasts.

2. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.

3. Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

4. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

5. Complementation analysis of fatty acid oxidation disorders.

6. Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.

7. Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes.

8. Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

1. Fatty Acid oxidation disorder with secondary mitochondrial energy production defect: a case report.

Review 2. Presentation and diagnosis of mitochondrial disorders in children.

Review 3. Mitochondrial disease in childhood: nuclear encoded.

4. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.