Abnormalities of Muscle Fibers in Maple Syrup Urine Disease

Overview

Journal Acta Neuropathol

Specialty Neurology

Date 1984 Jan 1

PMID 6464680

Citations 3

Authors

G Ferriere

M De Castro

J Rodriguez

Affiliations

Soon will be listed here.

Abstract

Muscle fiber abnormalities are described in three cases of neonatal maple syrup disease. There were important variations in fiber diameters. Lesions consisted in focal or diffuse destruction of myofibrils. In view of recent biochemical and clinical data, a direct relation between elevated branched-chain amino acid levels and the muscular abnormalities seems improbable.

Citing Articles

Branched-chain Amino Acids: Catabolism in Skeletal Muscle and Implications for Muscle and Whole-body Metabolism.

Mann G, Mora S, Madu G, Adegoke O Front Physiol. 2021; 12:702826.

PMID: 34354601 PMC: 8329528. DOI: 10.3389/fphys.2021.702826.

Depletion of branched-chain aminotransferase 2 (BCAT2) enzyme impairs myoblast survival and myotube formation.

Dhanani Z, Mann G, Adegoke O Physiol Rep. 2019; 7(23):e14299.

PMID: 31833233 PMC: 6908738. DOI: 10.14814/phy2.14299.

Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD.

S Sonnet D, OLeary M, Gutierrez M, Nguyen S, Mateen S, Hsu Y Sci Rep. 2016; 6:28775.

PMID: 27373929 PMC: 4931503. DOI: 10.1038/srep28775.

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