| H00075 | |
| H番号 | H00075 |
| 名称 | レフスム病; 多発神経炎型遺伝性失調症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ペルオキシソーム病 |
| ネットワーク | - |
| 病因遺伝子 | PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C57.1 ICD-10: G60.1 MeSH: D012035 OMIM: 266500 614879 |
| 文献 | PMID:17956237 著者 Wierzbicki AS タイトル Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. 雑誌 Biochem Soc Trans 35:881-6 (2007) DOI:10.1042/BST0350881 PMID:17956234 著者 Wanders RJ, Komen JC タイトル Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. 雑誌 Biochem Soc Trans 35:865-9 (2007) DOI:10.1042/BST0350865 PMID:12633678 (PHYH) 著者 Wanders RJ, Jansen GA, Lloyd MD タイトル Phytanic acid alpha-oxidation, new insights into an old problem: a review. 雑誌 Biochim Biophys Acta 1631:119-35 (2003) DOI:10.1016/S1388-1981(03)00003-9 PMID:14974078 (PEX7) 著者 Jansen GA, Waterham HR, Wanders RJ. タイトル Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). 雑誌 Hum Mutat 23:209-18 (2004) DOI:10.1002/humu.10315 |