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A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase
, Article Clinical Biochemistry ; Volume 90 , 2021 , Pages 66-72 ; 00099120 (ISSN) ; Nourbakhsh, M ; Vafadar, M ; Nourbakhsh, M ; Talebi, S ; Sharifi Zarchi, A ; Salehi Siavashani, E ; Garshasbi, M ; Sharif University of Technology
Elsevier Inc
2021
Abstract
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 discovered in an 11.58-year-old boy. During one 9-month hospital admission, he had periods of 1–4 days during which he was comatose, and between these periods he was sometimes verbose and euphoric, and had ataxia, dysarthria. Following hemodialysis treatments, he became conscious and...