KEGG   DISEASE: Leukoencephalopathy with dystonia and motor neuropathy
Entry
H00874                      Disease                                

Name
Leukoencephalopathy with dystonia and motor neuropathy;
Sterol carrier protein 2 deficiency
  Supergrp
Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
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
Nervous system disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00874  Leukoencephalopathy with dystonia and motor neuropathy
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00874  Leukoencephalopathy with dystonia and motor neuropathy
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H00874  Leukoencephalopathy with dystonia and motor neuropathy
Network
nt06021  beta-Oxidation in peroxisome
  Element
N00780  SCP2 deficiency in beta-oxidation
Gene
SCP2 [HSA:6342] [KO:K08764]
Other DBs
ICD-11: 5C57.1
ICD-10: E75.2
MeSH: C566654
OMIM: 613724
Reference
  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
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