A new defect of peroxisomal function involving pristanic acid: A case report

Journal of Neurology Neurosurgery and Psychiatry

Volumn 72, Issue 3, 2002, Pages 396-399

  McLean, B N ^a   Allen, J ^b   Ferdinandusse, S ^c   Wanders, R J A ^c  

^a ROYAL CORNWALL HOSPITAL   (United Kingdom)

^b SOUTHMEAD HOSPITAL   (United Kingdom)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; BILE ACID; DIHYDROXYCHOLANOIC ACID; PHYTANIC ACID; PRISTANIC ACID; RACEMASE; TRIHYDROXYCHOLESTANOIC ACID; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; DIET THERAPY; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; HUMAN; HYPOGONADISM; LEARNING DISORDER; MALE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; VISUAL DISORDER;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; FATTY ACIDS; GENES, RECESSIVE; HUMANS; LEARNING DISORDERS; MALE; MIDDLE AGED; PEROXISOMAL DISORDERS; RACEMASES AND EPIMERASES; RETINITIS PIGMENTOSA;

EID: 0036191961     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.72.3.396     Document Type: Article

References (21)

1. Microperoxisomes in the central nervous system of the postnatal rat
2. Peroxisomal disorders in neurology
3. Refsum disease
4. Peroxisomal disorders: Neurodevelopmental and biochemical aspects
5. Peroxisomal disorders: Clinical, biochemical, and molecular aspects
6. Heredopathia atactica polyneuritiformis; a familial syndrome not hitherto described. A contribution to the clinical study of hereditary disorders of the nervous system
7. Phytanoyl-coenzyme A hydroxylase deficiency: The enzyme defect in Refsum's disease
8. Identification of PAHX, a Refsum disease gene
9. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
10. Mitochondrial oxidation of phytanic acid in human and monkey liver: Implications that Refsum's disease is not a peroxisomal disorder
11. A familial syndrome of multiple congenital defects
12. Therapy of peroxisomal disorders
13. Peroxisomal disorders
14. Phenotype of patients with peroxisomal disorders subdivided into 16 complementation groups
15. Peroxisomal disorders: A review
16. Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
17. Screening of patients with retinitis pigmentosa for hederophathia atractita polyneuritiformis (Refsum's disease)
18. Infantile Refsum's disease: A generalised peroxisomal disorder: Report of a case with postmortem examination
19. Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal function
20. Diagnosis of peroxisomal disorders with neurological involvement
21. Late onset generalised disorder of peroxisomes