Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
| Autor: | P. Sharp, M. J. Whiting, Alf Poulos |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Phytanic acid Alpha (ethology) Disease Cerebrohepatorenal syndrome chemistry.chemical_compound Eicosanoic Acids Internal medicine Genetics medicine Humans Abnormalities Multiple Cells Cultured Genetics (clinical) Skin Pipecolic acid Zellweger syndrome business.industry Genetic Variation Infant Syndrome Fibroblasts medicine.disease Phytanic Acid Refsum disease Endocrinology chemistry Refsum Disease business Neonatal adrenoleukodystrophy |
| Zdroj: | Clinical Genetics. 26:579-586 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1984.tb01107.x |
| Popis: | The activity of phytanic acid oxidase is low in infantile and adult Refsum's disease, and in the cerebro-hepato-renal (Zellweger's) syndrome. The plasma of patients with the infantile but not the adult form of Refsum's disease contains increased amounts of pipecolic acid and of at least two abnormal bile acids, one of which has been identified as 3 alpha, 7 alpha, 12 alpha trihydroxy-5 beta-cholestan-26-oic acid. These changes are similar to those reported in the Zellweger syndrome and indicate that there may be similarities in the metabolic defects in Zellweger's syndrome and the infantile form of Refsum's disease. |
| Databáze: | OpenAIRE |
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