The natural history of dihydrolipoamide dehydrogenase deficiency in Israel
Ben Pode‐Shakked,
Yuval E. Landau,
Nava Shaul Lotan
et al.
Abstract: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 failure, and a rare myopathic phenotype. To elucidate the demographic, phenotypic, and molecular charac… Show more
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