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Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations.

Clinical laboratory - 1 Feb 2021

Yi Caihong, He Jiangping, Xu Juan, Zhang Xiaofang, Huang Jiao

Abstract excerpt

BACKGROUND: Classic homocystinuria is caused by cystathionine beta synthase deficiency owing to genetic mutations. The most common symptoms are ectopia lentis, osteoporosis, thrombosis, and mental retardation. This disease is prone to misdiagnosis and delayed diagnosis. METHODS: Here, we report a 19-year-old woman with Marfan's morphotype, high blood homocysteine, and a history of ectopia lentis. Total...

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Identifiers

PMID: 33616328
DOI: 10.7754/Clin.Lab.2020.200602

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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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