Dihydrolipoamide Dehydrogenase Deficiency (DLDD)

Alias:

Dld Deficiency

Pyruvate Dehydrogenase E3 Deficiency

E3 Deficiency

Lipoamide Dehydrogenase Deficiency

Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency

E3-Deficient Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Iii

Dldd

Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency

Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to

Nadh Cytochrome B5 Reductase Deficiency

Dihydrolipoyl Dehydrogenase Deficiency

Lactic Acidosis Due to Lad Deficiency

Maple Syrup Urine Disease Type Iii

Msud Type Iii

Msud Type 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dihydrolipoamide Dehydrogenase Deficiency, also known as dld deficiency, is related to maple syrup urine disease and pyruvate dehydrogenase e3-binding protein deficiency, and has symptoms including ataxia, cyanosis and headache. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase), and among its related pathways/superpathways are Leucine, isoleucine and valine metabolism and 2-oxobutanoate degradation. Affiliated tissues include liver and heart, and related phenotypes are vomiting and neurodevelopmental delay

Related ID：

MALACARDS：DHY010

OMIM：246900

MESH：D000140