Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 173-176

  Merinero, B ^a   Perez Cerda C ^a   Garcia, M J ^a   Gangoiti, J ^a   Font, L M ^a   Silva, M T Garcia ^b   Vianey Saban, C ^c   Duran, M ^d   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c HÔPITAL DEBROUSSE   (France)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARBOXYLIC ACID; CARNITINE; VERY LONG CHAIN FATTY ACID;

CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; DIET SUPPLEMENTATION; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; HUMAN; LOW FAT DIET; PRESCHOOL CHILD; URINE LEVEL;

ACIDOSIS; ACYL-COA DEHYDROGENASE, LONG-CHAIN; CARBOXYLIC ACIDS; CARDIOMYOPATHIES; CHILD; FEMALE; HUMANS; HYPOGLYCEMIA; LIVER DISEASES; MITOCHONDRIA;

EID: 0029942525     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799422     Document Type: Conference Paper

References (8)

1. Aoyama T, Uchida Y, Kelley RI, et al (1993) A novel disease with deficiency of mitochondrial very long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191: 1369-1372.
2. Aoyama T, Souri M, Ushikubo S, et al (1995) Purification of human very long-chain acyl-CoA dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95: 2465-2473.
3. Baumgartner ER, Fowler B, Wyler F, Vianey-Saban C (1994) Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency: neonatal cardiorespiratory arrest and aspects of treatment. VI Int. Congress Inborn Errors of Metabolism, Milan, Abstr. 19.8.
4. Bertrand C, Largilliere C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180: 327-329.
5. Dorland L, Horn ME, Struys EA, et al (1995) Novel FAB-MS of plasma acylcarnitines using single mass spectrometry. 33rd Annu Symp. SSIEM, Toledo, P137.
6. Duran M, de Klerk JBC, Wadman SK, Scholte HR, Beekman RP, Jennekens FGI (1984) Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities. Eur J Pediatr 142: 224-228.
7. McGarry JD, Foster DW (1976) An improved and simplified radioisotopic assay for the determination of free and esterified carnitine. J Lipid Res 17: 277-281.
8. Vianey-Saban C, Divry P, Zabot MT, Mathieu M (1994) Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency (VLCAD): identification of this new inborn error of fatty acid oxidation in 11 patients. 32nd Annu Symp. SSIEM, Edinburgh, O1.