Pyruvate dehydrogenase E3 deficiency
MONDO:0009529Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Also known as: DLD deficiency, E3-deficient maple syrup urine disease, dihydrolipoamide dehydrogenase deficiency, pyruvate dehydrogenase E3 deficiency, DLDD, Dld deficiency, E3 deficiency, lipoamide dehydrogenase deficiency, lactic acidosis due to
22 clinical trials for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Nervous system disorder
(231)
Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Peripheral nervous system disorder
(114)
Neuromuscular disease
(106)
Peripheral neuropathy
(91)
Inborn mitochondrial metabolism disorder
(58)
Inborn errors of metabolism
(45)