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Article

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2015

Silao Catherine Lynn T, Fabella Terence Diane F, Rama Kahlil Izza D, Estrada Sylvia C

Abstract excerpt

BACKGROUND: Classic homocystinuria due to cystathionine β-synthase (CBS) deficiency is an autosomal recessive disorder of sulfur metabolism. Clinical manifestations include mental retardation, dislocation of the optic lens (ectopia lentis), skeletal abnormalities and a tendency to thromboembolic episodes. We present the first mutational analysis of CBS in a Filipino patient with classic homocystinuria. METHODS:...

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Source

Identifiers

PMID: 25939784
DOI: 10.1111/ped.12666

Genes

CBS

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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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