The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.

doi:10.1002/jimd.12778

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Article

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.

Journal of inherited metabolic disease - 1 Sept 2024

Pode-Shakked Ben, Landau Yuval E, Shaul Lotan Nava, Manor Joshua, Haham Nitsan, Kristal Eyal, Hershkovitz Eli, Hazan Guy, Haham Yarden, Almashanu Shlomo, Anikster Yair, Staretz-Chacham Orna

Abstract excerpt

Dihydrolipoamide dehydrogenase (DLD) deficiency is an ultra-rare autosomal-recessive inborn error of metabolism, affecting no less than five mitochondrial multienzyme complexes. With approximately 30 patients reported to date, DLD deficiency was associated with three major clinical presentations: an early-onset encephalopathic phenotype with metabolic acidosis, a predominantly hepatic presentation with liver...

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PMID: 39040027
DOI: 10.1002/jimd.12778

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