Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. Disease data Classification Disease Synonyms Adult Refsum disease Dziedziczna neuropatia ruchowa i czuciowa typu 4 Heredopathia atactica polyneuritiformis HMSN 4 Niedobór oksydazy kwasu fitanowego Classic Refsum disease HMSN 4 HMSN IV Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type IV Heredopathia atactica polyneuritiformis Phytanic-CoA hydroxylase deficiency ORPHA code 773 OMIM code 614879 ICD10 code G60.1 ICD11 code 5C57.1 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl