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
Inherited metabolic disorder, Peroxisomal disease
Brite
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
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06021  beta-Oxidation in peroxisome
   H00874  Leukoencephalopathy with dystonia and motor neuropathy
Pathway
hsa00120  Primary bile acid biosynthesis
hsa04146  Peroxisome
Network
nt06021 beta-Oxidation in peroxisome
Gene
SCP2 [HSA:6342] [KO:K08764]
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

» Japanese version

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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (6)   

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