Generalized peroxisomal disorder in male twins: Fatty acid composition of serum lipids and response to n - 3 fatty acids

Journal of Inherited Metabolic Disease

Volumn 21, Issue 6, 1998, Pages 662-670

  Sovik O ^a   Mansson J E ^b   Bjorke Monsen A L ^a   Jellum, E ^c   Berge, R K ^d  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c UNIVERSITY OF OSLO   (Norway)

^d UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

DOCOSAHEXAENOIC ACID; ICOSAPENTAENOIC ACID; LONG CHAIN FATTY ACID; PLASMALOGEN;

ARTICLE; BILE ACID BLOOD LEVEL; CASE REPORT; DISORDERS OF PEROXISOMAL FUNCTIONS; FACE DYSMORPHIA; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; INFANT; KIDNEY CALCIFICATION; LIPID BLOOD LEVEL; LIPID COMPOSITION; MALE; MUSCLE HYPOTONIA; NEPHROLITHIASIS; NERVOUS SYSTEM DEVELOPMENT; NEWBORN; PRESCHOOL CHILD;

DISEASES IN TWINS; FATAL OUTCOME; FATTY ACIDS; FATTY ACIDS, OMEGA-3; HUMANS; INFANT; LIPIDS; MALE; PEROXISOMAL DISORDERS; PHOSPHOLIPIDS; TWINS, MONOZYGOTIC;

EID: 0031721826     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005484617709     Document Type: Article

References (22)

1. Barth PG, Schutgens RBH, Bakkeren JAJM, Heymans HSA, Douwes AC, van de Klei-van Moorsel JM (1985) A milder variant of Zellweger syndrome. Eur J Pediatr 144: 338-342.
2. Barth PG, Schutgens RBH, Wanders RJA, et al (1987) A sibship with a mild variant of Zellweger syndrome. J Inher Metab Dis 10: 253-259.
3. Bowen P, Lee CSN, Zellweger H, Lindenberg RA (1964) A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 114: 402-414.
4. Ek J, Kase BF, Reith A, Bjorkhem I, Pedersen JI (1986) Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. J Pediatr 108: 19-24.
5. 9-desaturase activity in rat liver microsomes. Biochim Biophys Acta 962: 330-336.
6. Goldfischer S, Moor CL, Johnson AB, et al (1973) Peroxisomal and mitochondrial defects in cerebro-hepato-renal syndrome. Science 182: 62-64.
7. GrØnn M, GØrbitz C, Christensen E, et al (1991) Dietary n - 6 fatty acids inhibit the incorporation of dietary n - 3 fatty acids in thrombocyte and serum phospholipids in humans : a controlled dietetic study. Scand J Clin Lab Invest 51: 255-263.
8. Kyllerman M, Blomstrand S, Månsson J-E, Conradi NG, Hindmarsch T (1990) Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleu-kodystrophy. Neuropediatrics 21: 199-201.
9. Lie Ø, Lied E, Lambertsen G (1987) Lipid digestion in cod. Comp Biochem Physiol 88B: 697-700.
10. Mahfouz MM, Smith TL, Kummerow FA (1984) Effect of dietary fat on desaturase activities and the biosynthesis of fatty acids in rat liver microsomes. Lipids 19: 214-222.
11. Martinez M (1990) Severe deficiency of docosahexaenoic acid in peroxisomal disorders: a defect of delta 4 desaturation? Neurology 40: 1292-1298.
12. Martinez M (1992a) Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders. Brain Res 583: 171-182.
13. Martinez M (1992b) Treatment with docosahexaenoic acid favourably modifies the fatty acid composition of erythrocytes in peroxisomal patients. In Coates PM, Tanaka K, eds. Proceedings 2nd International Symposium on Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation, New York: Wiley-Liss. 389-397.
14. Martinez M, Garcia-Silva MT, Manzanarez J (1996) Docosahexaenoic acid in the treatment of patients with generalized peroxisomal disorders: report of a case. J Inher Metab Dis 19 (supplement 1): 5 (Abstract).
15. Poll-The BT, Saudubray JM, Ogier H, et al (1987) Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleu-kodystrophy. Eur J Pediatr 146: 477-483.
16. Roels F, Fischer S, Kissling W (1993) Polyunsaturated fatty acids in peroxisomal disorders : a hypothesis and a proposal for treatment. J Neurol Neurosurg Psychiatry 56: 937.
17. Samsom JF, Jacobs C, van de Klei-van Moorsel J, Smit LME, Schutgens RBH, Wanders RJA (1992) Zellweger syndrome in a preterm, small for gestational age infant. J Inher Metab Dis 15:75-83.
18. Schutgens RBH, Romeyn GJ, Wanders RJA, van den Bosch H, Schrakamp G, Heymans HSA (1984) Deficiency of acyl-CoA : dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. Biochem Biophys Res Commun 120: 179-184.
19. Smith PK, Krohn RI, Hermansson GT, et al (1985) Measurement of protein using bicinchoninic acid. Anal Biochim 150: 76-85.
20. SØvik O, BjØrke Monsen AL, Berge RK, Kryvi H, Jellum E (1994) Zellweger-like syndrome: prolonged survival in male twins during treatment with n - 3 fatty acids. VI International Congress on Inborn Errors of Metabolism, Milano 1994, Abstract W3.6.
21. Theil AC, Schutgens RBH, Wanders RJA, Heymans HSA (1992) Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients Eur J Pediatr 151: 117-120.
22. Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM (1988) Peroxisomal disorders in neurology. Review article. J Neurol Sci 88: 1-39.