The Spectrum of Mutations of Homocystinuria in the MENA Region.

doi:10.3390/genes11030330

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Article

The Spectrum of Mutations of Homocystinuria in the MENA Region.

Genes - 20 Mar 2020

Al-Sadeq Duaa W, Nasrallah Gheyath K

Abstract excerpt

Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. It leads to the elevation of both homocysteine and methionine levels in the blood and urine. Consequently, this build-up could lead to several complications such as nearsightedness, dislocated eye lenses, a variety of psychiatric and behavioral disorders, as well as vascular system...

Topics

Cystathionine beta-Synthase
Genetic Testing
Homocystinuria
Humans
Mutation

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Identifiers

PMID: 32245022
DOI: 10.3390/genes11030330
PMCID: PMC7140887

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