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Hypermethioninemias of genetic and non‐genetic origin: A review

9 Feb 2011

Abstract excerpt

This review covers briefly the major conditions, genetic and non-genetic, sometimes leading to abnormally elevated methionine, with emphasis on recent developments. A major aim is to assist in the differential diagnosis of hypermethioninemia. The genetic conditions are: (1) Homocystinuria due to cystathionine β-synthase (CBS) deficiency. At least 150 different mutations in the CBS gene have been identified since...

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PMID: 21308989
DOI: 10.1002/ajmg.c.30293

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