Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD)

Pyruvate Dehydrogenase E1-Alpha Deficiency(来自ICD-11)

别称:

Pyruvate Dehydrogenase Deficiency

Pyruvate Decarboxylase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pdhad

Pyruvate Dehydrogenase Complex Deficiency Disease

Pdh Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia with Lactic Acidosis I

Ataxia with Lactic Acidosis

Pdhc

Pdh

Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency

Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency

Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency

Ataxia, Intermittent, with Abnormal Pyruvate Metabolism

Ataxia Intermittent with Abnormal Pyruvate Metabolism

Pdc - [pyruvate Dehydrogenase Complex] Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Deficiency of Pyruvic Dehydrogenase

Ataxia with Lactic Acidosis 1

Ataxia with Lactic Acidosis 2

Pdhc Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase deficiency, is related to pyruvate dehydrogenase e3-binding protein deficiency and multiple mitochondrial dysfunctions syndrome, and has symptoms including lethargy, seizures and nasal flaring. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Strawberry and Pyruvate have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are hypotonia and abnormal facial shape

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