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Article

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Developmental medicine and child neurology - 1 Sept 2010

Gümüş Hakan, Ghesquiere Stijn, Per Hüseyin, Kondolot Meda, Ichida Kimiyoshi, Poyrazoğlu Gamze, Kumandaş Sefer, Engelen John, Dundar Munis, Cağlayan Ahmet Okay

Abstract excerpt

Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and...

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Source

Identifiers

PMID: 20573177
DOI: 10.1111/j.1469-8749.2010.03724.x

Genes

MOCS1
MOCS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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