A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase

A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase Publisher Pubmed

Razzaghyazar M^{1, 2} ; Nourbakhsh M^{3, 4} ; Vafadar M² ; Nourbakhsh M^{3, 4} ; Talebi S⁴ ; Sharifizarchi A⁵ ; Salehi Siavashani E⁶ ; Garshasbi M⁷

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1. Hazrat Aliasghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran
2. Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Biochemistry, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
4. Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
5. Computer Engineering Department, Sharif University of Technology, Tehran, Iran
6. PardisGene Company, Tehran, Iran
7. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Source: Clinical Biochemistry Published: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 appeared healthy. Organ evaluations and his laboratory tests were normal. Toxicological evaluation of his blood showed a high methanol level [12.2 mg/dL (3.8 mmol/L), normal range up to 3.5 mg/dL (1.09 mmol/L) while the formaldehyde level was undetectable. The finding of liver function tests that were within normal limits, coupled with a normal eye examination and size of the liver, elevated blood methanol levels and an undetectable formaldehyde level, suggested ADH insufficiency. Adding zinc to the drug regimen 15 mg/daily dramatically reduced the patient's methanol level and alleviated the abnormal symptoms. When zinc supplementation was discontinued, the patient relapsed into a coma and hemodialysis was once again required. A homozygous mutation in ADH1C gene located at exon 3 was found, and both parents were heterozygous for this mutation. Conclusion: Accumulation of methanol due to mutation in ADH1C gene may result in drunkenness and ataxia, and leads to coma. This condition can be successfully treated with zinc supplementation as the cofactor of ADH. © 2021

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Style	Citing Format
MLA	Razzaghyazar M, et al.. "A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase." Clinical Biochemistry, vol. 90, no. , 2021, pp. 66-72.
APA	Razzaghyazar M, Nourbakhsh M, Vafadar M, Nourbakhsh M, Talebi S, Sharifizarchi A, Salehi Siavashani E, Garshasbi M (2021). A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase. Clinical Biochemistry, 90(), 66-72.
Chicago	Razzaghyazar M, Nourbakhsh M, Vafadar M, Nourbakhsh M, Talebi S, Sharifizarchi A, Salehi Siavashani E, Garshasbi M. "A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase." Clinical Biochemistry 90, no. (2021): 66-72.
Harvard	Razzaghyazar M et al. (2021) 'A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase', Clinical Biochemistry, 90(), pp. 66-72.
Vancouver	Razzaghyazar M, Nourbakhsh M, Vafadar M, Nourbakhsh M, Talebi S, Sharifizarchi A, et al.. A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase. Clinical Biochemistry. 2021;90():66-72.
BibTex	@article{ author = {Razzaghyazar M and Nourbakhsh M and Vafadar M and Nourbakhsh M and Talebi S and Sharifizarchi A and Salehi Siavashani E and Garshasbi M}, title = {A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase}, journal = {Clinical Biochemistry}, volume = {90}, number = {}, pages = {66-72}, year = {2021} }
RIS	TY - JOUR AU - Razzaghyazar M AU - Nourbakhsh M AU - Vafadar M AU - Nourbakhsh M AU - Talebi S AU - Sharifizarchi A AU - Salehi Siavashani E AU - Garshasbi M TI - A Novel Metabolic Disorder in the Degradation Pathway of Endogenous Methanol Due to a Mutation in the Gene of Alcohol Dehydrogenase JO - Clinical Biochemistry VL - 90 IS - SP - 66 EP - 72 PY - 2021 ER -

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