KEGG   DISEASE: Sulfide quinone oxidoreductase deficiency
Entry
H02662                      Disease                                
Name
Sulfide quinone oxidoreductase deficiency
Description
Sulfide quinone oxidoreductase deficiency (SQORD) is a neurological disorder like Leigh syndrome [DS:H01354]. It is characterized by coma with lactic acidosis, and lesions in the basal ganglia. It has been reported that mutations in SQOR cause this disease. SQOR catabolize hydrogen sulfide. SQOR dysfunction can result in hydrogen sulfide accumulation that inhibits mitochondrial complex IV.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C63  Disorders of vitamin or non-protein cofactor absorption or transport
     H02662  Sulfide quinone oxidoreductase deficiency
Gene
SQOR [HSA:58472] [KO:K22470]
Other DBs
ICD-11: 5C63.Y
OMIM: 619221
Reference
PMID:32160317
  Authors
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK
  Title
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
  Journal
J Inherit Metab Dis 43:1024-1036 (2020)
DOI:10.1002/jimd.12232
LinkDB

» Japanese version

DBGET integrated database retrieval system