Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is implicated in most cases of PDHC deficiency w...

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Bibliographic Details
Main Authors: Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
PDHC deficiency
BOLA3
Multiple mitochondrial dysfunctions syndrome type 2
South Africa
PDHA1
Next generation sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300756

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http://www.sciencedirect.com/science/article/pii/S2214426920300756

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