The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia

Anar Alfarsi,Majid Alfadhel,Seham Alameer,Amal Alhashem,Brahim Tabarki,Faroug Ababneh, Ahmed Al Fares,Fuad Al Mutairi

Molecular Genetics and Metabolism Reports（2021）

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摘要

We describe the largest reported DLDD cohort in the Saudi population. Clinical, biochemical, radiological, and molecular characterization was reviewed and no clear genotype-phenotype correlation was found in this cohort.

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关键词

Dihydrolipoamide dehydrogenase deficiency,Lactic acidosis,Hypoglycemia,Pyruvate dehydrogenase complex,Flavoprotein and E3

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