Dihydrolipoamide dehydrogenase deficiency

Dihydrolipoamide dehydrogenase deficiency (disorder)

active

Code	`29914000`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Congenital infantile lactic acidosis due to LAD deficiency
Cytochrome-b reductase deficiency
DLD - Dihydrolipoamide dehydrogenase deficiency
Deficiency of diaphorase
Deficiency of dihydrolipoamide dehydrogenase
Deficiency of lipoamide reductase (NADH)
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Lactic acidosis due to LAD deficiency
Lipoamide dehydrogenase deficiency
Maple syrup urine disease with lactic acidosis
Maple syrup urine disease, type III

Parents (3)

237981000Disorder of pyruvate metabolism and mitochondrial respiratory chain disorder
91273001Lactic acidosis disorder
27718001Maple syrup urine disease disorder

Children (0)

None (leaf concept).