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Article

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2016

Zaki Maha S, Selim Laila, El-Bassyouni Hala T, Issa Mahmoud Y, Mahmoud Iman, Ismail Samira, Girgis Mariane, Sadek Abdelrahim A, Gleeson Joseph G, Abdel Hamid Mohamed S

Abstract excerpt

AIM: Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27289259
DOI: 10.1016/j.ejpn.2016.05.011
PMCID: PMC4993451

Genes

MOCS2
SUOX
MOCS1
MOCS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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