KEGG DISEASE: Sorbitol dehydrogenase deficiency with peripheral neuropathy

DISEASE: Sorbitol dehydrogenase deficiency with peripheral neuropathy

Entry

H02567                      Disease

Name

Sorbitol dehydrogenase deficiency with peripheral neuropathy

Description

Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic mutations in SORD that encodes an enzyme that converts sorbitol into fructose.

Category

Inherited metabolic disorder

Brite

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
     H02567  Sorbitol dehydrogenase deficiency with peripheral neuropathy

Pathway

hsa00051

Fructose and mannose metabolism

hsa00040

Pentose and glucuronate interconversions

Gene

SORD [HSA:6652] [KO:K00008]

Other DBs

ICD-11:

5C51.Y

OMIM:

618912

Reference

PMID:32367058

Authors

Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, Isasi R, Khan A, Laura M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schule R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S

Title

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Journal

Nat Genet 52:473-481 (2020)
DOI:10.1038/s41588-020-0615-4

LinkDB

» Japanese version

DBGET integrated database retrieval system