| H00075 | |
| H number | H00075 |
| Name | Refsum disease; Heredopathia atactica polyneuritiformis |
| Description | Refsum disease (RD) is an autosomal recessive sensory motor neuropathy characterized by retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an increased number of cells. The age at which symptoms first present in RD can be variable although most cases present in adolescence. Because the patients are unable to metabolize phytanic acid derived from exogenous sources, highly raised plasma phytanic acid (PA) level in tissues and body fluids is the hallmark of RD. Mutant forms of phytanoyl-CoA 2-hydroxylase (PHYH) which plays a key role of phytanic acid alpha-oxidation in peroxisomes have been shown to be responsible for some, but not all, cases of Refsum's disease. Peroxisomal PHYH import occurs via PEX7 which is the peroxisomal matrix protein receptor. Though PEX7 has been identified another responsible gene, there still remain a small number of patients in whom no mutations in either of these two genes can be found. |
| Category | Inherited metabolic disorder, Peroxisomal disease |
| Network | - |
| Gene | PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C57.1 ICD-10: G60.1 MeSH: D012035 OMIM: 266500 614879 |
| Reference | PMID:17956237 AUTHORS Wierzbicki AS TITLE Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. JOURNAL Biochem Soc Trans 35:881-6 (2007) DOI:10.1042/BST0350881 PMID:17956234 AUTHORS Wanders RJ, Komen JC TITLE Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. JOURNAL Biochem Soc Trans 35:865-9 (2007) DOI:10.1042/BST0350865 PMID:12633678 (PHYH) AUTHORS Wanders RJ, Jansen GA, Lloyd MD TITLE Phytanic acid alpha-oxidation, new insights into an old problem: a review. JOURNAL Biochim Biophys Acta 1631:119-35 (2003) DOI:10.1016/S1388-1981(03)00003-9 PMID:14974078 (PEX7) AUTHORS Jansen GA, Waterham HR, Wanders RJ. TITLE Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). JOURNAL Hum Mutat 23:209-18 (2004) DOI:10.1002/humu.10315 |