Article
A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase.
Clinical biochemistry - 1 Apr 2021
Razzaghy-Azar Maryam, Nourbakhsh Mitra, Vafadar Mehdi, Nourbakhsh Mona, Talebi Saeed, Sharifi-Zarchi Ali, Salehi Siavashani Elham, Garshasbi Masoud
Abstract excerpt
BACKGROUND: A small amount of methanol is produced endogenously in the human body but it is efficiently metabolized by alcohol dehydrogenase (ADH) and other enzymes, and the products eliminated without harm. In this study, we present a new entity of inborn error of methanol metabolism due to a mutation in the ADH1C gene coding for the γ subunit that is part of several ADH isoenzymes. RESULTS: This disorder was...
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