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Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.

Arquivos de neuro-psiquiatria - 1 Feb 2024

Lorenzoni Paulo José, Kay Cláudia Suemi Kamoi, Ducci Renata Dal-Pra, Fustes Otto Jesus Hernandez, Rodrigues Paula Raquel do Vale Pascoal, Arndt Raquel Cristina, Scola Rosana Herminia, Werneck Lineu Cesar

Abstract excerpt

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive inherited disorder related to lipid metabolism affecting skeletal muscle. The first cases of CPT II deficiency causing myopathy were reported in 1973. In 1983, Werneck et al published the first two Brazilian patients with myopathy due to CPT II deficiency, where the biochemical analysis confirmed deficient CPT activity in the muscle...

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Identifiers

PMID: 38395422
DOI: 10.1055/s-0044-1779508
PMCID: PMC10890914

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