| Entry |
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| Name |
Molybdenum cofactor deficiency |
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| Supergrp |
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| 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].
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| Category |
Congenital disorder of metabolism
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| 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
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Related
pathway |
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| Network |
nt06025 Molybdenum cofactor biosynthesis |
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| Element |
| N00892 | GPHN deficiency in molybdenum cofactor biosynthesis |
| N00893 | MOCS2 deficiency in molybdenum cofactor biosynthesis |
| N00894 | MOCS1 deficiency in molybdenum cofactor biosynthesis |
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| Gene |
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| Drug |
Fosdenopterin hydrobromide [DR: D11780]
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| Other DBs |
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| Reference |
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| Authors |
Reiss J |
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| Title |
Genetics of molybdenum cofactor deficiency. |
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| Journal |
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| Reference |
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| Authors |
Reiss J, Johnson JL |
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| Title |
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. |
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| Journal |
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| LinkDB |
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