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Article

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Journal of inherited metabolic disease - 1 Jan 2005

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr J A, Shawan, Müller-Höcker J, Pongratz D, Moller L B, Horn N, Jaksch M

Abstract excerpt

Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenting with congenital cataract, severe muscular hypotonia, developmental delay, sensorineural hearing loss and cytochrome-c oxidase deficiency with repeatedly low copper and ceruloplasmin levels. These findings...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15902551
DOI: 10.1007/s10545-005-0479-x

Genes

ATOX1
COX11
COX17
COX19
SCO1
SCO2
SOD1

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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