Compromised fatty acid oxidation in mitochondrial disorders

Journal of Inherited Metabolic Disease

Volumn 21, Issue 5, 1998, Pages 613-617

  Hagenfeldt, L ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

PALMITIC ACID; TRITIUM;

AEROBIC METABOLISM; BLOOD ANALYSIS; CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FATTY ACID OXIDATION; FIBROBLAST CULTURE; HUMAN; LYMPHOCYTE CULTURE; RESPIRATORY CHAIN; URINALYSIS;

FATTY ACIDS; HUMANS; MITOCHONDRIAL MYOPATHIES; OXIDATION-REDUCTION;

EID: 0031873443     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005431424744     Document Type: Conference Paper

References (8)

1. Bennett MJ, Weinberger MJ, Sherwood WG, Burlina AB (1994) Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. J. Inher Metab Dis 17: 283-286.
2. Brivet M, Slama A, Saudubray J-M, Legrand A, Leminnier A (1995) Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes. Ann Clin Biochem 32: 154-159.
3. 3H]myristic acids for detection of fatty acid oxidation defects in intact cultured fibroblasts. J Inher Metab Dis 13: 58-68.
4. Mayatepek KE, Wanders RJA, Hoffmann GE (1995) Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria. J Inher Metab Dis 18: 249-252.
5. Moon A and Rhead WJ (1987) Complementation analysis of fatty acid oxidation disorders. J Clin Invest 79: 59-64.
6. Santorelli FM, Mak SC, Vazquezmemije ME, et al (1996) Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 39: 914-917.
7. Venizelos N, von Döbeln U, Hagenfeldt L (1998) Fatty acid oxidation in fibroblasts from patients with defects in the β-oxidation and in the respiratory chain. J Inher Metab Dis, submitted.
8. Watmough NJ, Bindoff, LA, Birch-Machin MA, et al (1990) Impaired mitochondrial β-oxidation in a patient with an abnormality of the respiratory chain. J Clin Invest 85: 177-184.