A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 965-969

  van den Brink, D M ^a   van Miert, J M ^a   Wanders, R J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; FATTY ACID; FATTY ALCOHOL; FATTY ALDEHYDE DEHYDROGENASE; HEXANE; NICOTINAMIDE ADENINE DINUCLEOTIDE; PHYTENIC ACID; PHYTOL; UNCLASSIFIED DRUG;

ARTICLE; CHORION VILLUS; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FETUS; FIBROBLAST; GAS CHROMATOGRAPHY; HUMAN; HUMAN CELL; ICHTHYOSIS; MASS SPECTROMETRY; MENTAL DEFICIENCY; PRENATAL DIAGNOSIS; QUADRIPLEGIA; SJOEGREN LARSSON SYNDROME; SPASTIC PARESIS;

ALCOHOL OXIDOREDUCTASES; ALDEHYDE OXIDOREDUCTASES; BIOPSY; CELLS, CULTURED; CHORIONIC VILLI; FIBROBLASTS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; MODELS, CHEMICAL; PHYTANIC ACID; PHYTOL; PRENATAL DIAGNOSIS; SJOGREN-LARSSON SYNDROME; TIME FACTORS;

EID: 31644444323     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0115-9     Document Type: Article

References (12)

1. + oxidoreductase in cultured fibroblasts. J Clin Invest 88: 1643-1648.
2. Rizzo WB Dammann AL, Craft DA (1988) Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nIcotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 81: 738-744.
3. Rizzo WB, Dammann AL, Craft DA, et al (1989) Sjögren-Larsson syndrome: Inherited defect in the fatty alcohol cycle. J Pediatr 115: 228-234.
4. Rizzo WB, Craft DA, Kelson TL, et al (1994) Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods. Prenat Diagn 14: 577-581.
5. Rizzo WB, Carney G, Lin Z (1999) The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet 65: 1547-1560.
6. Van den Brink DM, Van Miert JN, Dacremont G, Rontani JF, Jansen GA, Wanders RJ (2004) Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab 82: 33-37.
7. Van den Brink DM, Van Miert JM, Wanders, RJ (2005) Assay for Sjogren-Larsson syndrome based on a deficiency of phytol degradation. Clin Chem 51: 240-242.
8. Wanders RJA, Jakobs C, Skjeldal, OH (2001) Refsum disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill: New York, 3303-3321.
9. Willemsen MA, Ijlst L, Steijlen PM, et al (2001) Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain 124: 1426-1437.
10. Willemsen MA, Rotteveel JJ, de Jong JG, et al (2001) Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome. J Neurol Sci 183: 61-67.
11. Willemsen MA, Van Der Graaf M, Van Der Knaap MS, et al (2004) MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR Am J Neuroradiol 25: 649-657.
12. Yoshida A, Rzhetsky A, Hsu LC, Chang C (1998) Human aldehyde dehydrogenase gene family. Eur J Biochem 251: 549-557.