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Article

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.

Ophthalmic genetics - 1 Jan 2000

Couser Natario L, McClure Julie, Evans Michael W, Haines Nathan R, Burden Susan K, Muenzer Joseph

Abstract excerpt

The most common cause of isolated inherited homocysteinemia is a deficiency of the enzyme cystathionine β-synthase (CBS). Clinical manifestations of CBS deficiency can include ectopia lentis, thromboembolism, marfanoid habits, and intellectual disability. CBS deficiency, which affects the transsulfuration pathway, is marked biochemically by elevated serum homocysteine and plasma methionine. We report a patient...

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Source

Identifiers

PMID: 27046515
DOI: 10.3109/13816810.2016.1143017

Genes

MTHFR
CBS

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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