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Article

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

Orphanet journal of rare diseases - 22 Oct 2020

Pavlu-Pereira Hana, Silva Maria João, Florindo Cristina, Sequeira Sílvia, Ferreira Ana Cristina, Duarte Sofia, Rodrigues Ana Luísa, Janeiro Patrícia, Oliveira Anabela, Gomes Daniel, Bandeira Anabela, Martins Esmeralda, Gomes Roseli, Soares Sérgia, Tavares de Almeida Isabel, Vicente João B, Rivera Isabel

Abstract excerpt

BACKGROUND: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic information...

Topics

Humans
Mutation
Portugal
Pyruvate Dehydrogenase (Lipoamide)
Pyruvate Dehydrogenase Complex
Pyruvate Dehydrogenase Complex Deficiency Disease

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33092611
DOI: 10.1186/s13023-020-01586-3
PMCID: PMC7579914

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