H00874 | |
H number | H00874 |
Name | Leukoencephalopathy with dystonia and motor neuropathy; Sterol carrier protein 2 deficiency |
Description | Leukoencephalopathy with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presents with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. |
Category | Inherited metabolic disorder, Peroxisomal disease |
Network | nt06021(H00874) beta-Oxidation in peroxisome |
Gene | SCP2 [HSA:6342] [KO:K08764] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C57.1 ICD-10: E75.2 MeSH: C566654 OMIM: 613724 |
Reference | PMID:16685654 AUTHORS Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M TITLE Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. JOURNAL Am J Hum Genet 78:1046-52 (2006) DOI:10.1086/503921 |