KEGG   DISEASE: Ribose 5-phosphate isomerase deficiency
Entry
H01135                      Disease                                

Name
Ribose 5-phosphate isomerase deficiency
Description
Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral neuropathy. Systematic metabolic profiling identified elevated levels of arabitol and ribitol in affected brain regions and body fluids. RPI gene-sequence analysis revealed a frameshift and a missense mutation.
Category
Inherited metabolic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H01135  Ribose 5-phosphate isomerase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H01135  Ribose 5-phosphate isomerase deficiency
Pathway
hsa00030  Pentose phosphate pathway
Gene
RPIA [HSA:22934] [KO:K01807]
Other DBs
ICD-11: 5C51.0
MeSH: C563212
OMIM: 608611
Reference
  Authors
Wamelink MM, Gruning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M
  Title
The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.
  Journal
J Mol Med (Berl) 88:931-9 (2010)
DOI:10.1007/s00109-010-0634-1
Reference
  Authors
Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS
  Title
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
  Journal
Am J Hum Genet 74:745-51 (2004)
DOI:10.1086/383204
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