Dihydrolipoamide dehydrogenase deficiency

Definition:

Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme complexes: branched chain alpha-ketoacid dehydrogenase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype.

References:

[1]. Marie-Hélène Odièvre, et al. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum Mutat. 2005 Mar;25(3):323-4. [Content Brief]

[2]. Shane C Quinonez, et al. Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte. Mol Genet Metab Rep. 2014 Aug 15;1:345-349. [Content Brief]

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