dihydrolipoamide dehydrogenase deficiency

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dihydrolipoamide dehydrogenase deficiency2016-11-29T00:42:23+00:00

dihydrolipoamide dehydrogenase deficiency 


Definition An autosomal recessive metabolic disorder (OMIM:246900) characterised by lactic acidosis and neurologic deterioration

Clinical findings Lactic acidosis and neurologic deterioration due to sensitivity of the CNS to defective oxidative metabolism.

Biochemical findings Combined deficiency of:

• Alpha-ketoglutarate dehydrogenase complex

• Branched-chain alpha-keto acid dehydrogenase complex

• Pyruvate dehydrogenase complex

Molecular pathology Defects of DLD, which encodes a moonlighting protein that, as a homodimer, regulates energy metabolism and as a monomer acts as a protease, cause dihydrolipoamide dehydrogenase deficiency. 

Synonyms DLD deficiency, E3 deficiency, lactic acidosis due to maple syrup urine diseasetype III, lipoamide dehydrogenase deficiency 

References http://www.uniprot.org/uniprot/P09622


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