HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

[Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].

Abstract
Peroxisomal disorders are genetic metabolic diseases with generalized, multiple, or single functional disturbances of the peroxisome. According to the extent of the functional disturbances 3 groups of diseases can be differentiated: disorders with generalized loss of peroxisomal functions (Zellweger syndrome, ZS; neonatal adrenoleukodystrophy, NALD; infantile Refsum's disease), disorders with multiple enzymatic defects (e.g. rhizomelic chondrodysplasia punctata), and disorders with a single enzymatic defect in the peroxisome, the most important being adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN). Adult Refsum's disease, a genetic neurological disorder with phytanic acid accumulation, is due to a mitochondrial enzyme deficiency, but is often considered together with peroxisomal diseases because of phytanic acid (PHYT) accumulation in most peroxisomal diseases. The main clinical and pathological criteria of the major disorders and the biochemical parameters of their differentiation are presented. Elevated levels of very long chain fatty acids (VLCFA) and/or PHYT are the primary diagnostic markers for all peroxisomal disorders and adult Refsum's disease, respectively. Our investigations disclosed 30 ALD/AMN hemizygotes, 16 ALD/AMN heterozygotes, 8 cases of ZS/NALD and 7 patients with adult Refsum's disease. In addition, 15 cases of peroxisomal disorders were confirmed by biochemical investigations in autopsy material. With regard to peroxisomal disorders, therapeutic concepts exist only for ALD/AMN: corticosteroid substitution for adrenal insufficiency, dietary treatment, and bone marrow transplantation (BMT). Adult Refsum's disease can be treated successfully by dietary therapy. In case of dietary treatment and BMT, assay of VLCFA and/or PHYT is important for the biochemical evaluation of these therapies.
AuthorsB Molzer, S Stöckler, H Bernheimer
JournalWiener klinische Wochenschrift (Wien Klin Wochenschr) Vol. 104 Issue 21 Pg. 665-70 ( 1992) ISSN: 0043-5325 [Print] Austria
Vernacular TitlePeroxisomale neurologische Erkrankungen und M. Refsum: Uberlangkettige Fettsäuren und Phytansäure als diagnostische Marker.
PMID1282286 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
Chemical References
  • Fatty Acids
  • Phytic Acid
Topics
  • Adolescent
  • Adrenoleukodystrophy (blood, diagnosis, genetics)
  • Adult
  • Child
  • Child, Preschool
  • Fatty Acids (blood)
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Infant, Newborn
  • Microbodies (physiology)
  • Neonatal Screening
  • Phytic Acid (blood)
  • Refsum Disease (blood, diagnosis, genetics)
  • Zellweger Syndrome (blood, diagnosis, genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: