KEGG   DISEASE: Molybdenum cofactor deficiency
Entry
H02311                      Disease                                

Name
Molybdenum cofactor deficiency
  Supergrp
Xanthinuria [DS:H00192]
Description
Molybdenum cofactor deficiency (MOCOD) is a rare  autosomal recessive disorder that leads to early childhood death. Mutations have been identified in three genes: MOCS1, MOCS2, and GEPH. These mutations result in the simultaneous loss of all MoCo-dependent enzyme activities, that include sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. MOCOD results in neonatal seizures and other neurological symptoms identical to those of sulphite oxidase deficiency [DS:H01237].
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H02311  Molybdenum cofactor deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H02311  Molybdenum cofactor deficiency
Related
pathway
hsa01240  Biosynthesis of cofactors
hsa00790  Folate biosynthesis
Network
nt06025  Molybdenum cofactor biosynthesis
  Element
N00892  GPHN deficiency in molybdenum cofactor biosynthesis
N00893  MOCS2 deficiency in molybdenum cofactor biosynthesis
N00894  MOCS1 deficiency in molybdenum cofactor biosynthesis
Gene
(MOCODA) MOCS1 [HSA:4337] [KO:K20967]
(MOCODB) MOCS2 [HSA:4338] [KO:K03635]
(MOCODC) GEPH [HSA:10243] [KO:K15376]
Drug
Fosdenopterin hydrobromide [DR:D11780]
Other DBs
ICD-11: 5C50.B
ICD-10: E72.1
MeSH: C535811
OMIM: 252150 252160 615501
Reference
  Authors
Reiss J
  Title
Genetics of molybdenum cofactor deficiency.
  Journal
Hum Genet 106:157-63 (2000)
DOI:10.1007/s004399900223
Reference
  Authors
Reiss J, Johnson JL
  Title
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
  Journal
Hum Mutat 21:569-76 (2003)
DOI:10.1002/humu.10223
LinkDB

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