Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD)

Alias:
Pdhbd
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency
Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Deficiency
Pdh Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pdhbd, is related to pyruvate dehydrogenase e1-alpha deficiency and pyruvate dehydrogenase e2 deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase E1 Subunit Beta). The drugs Strawberry and Pyruvate have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related phenotypes are agenesis of corpus callosum and hypotonia
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Basic Information

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Related Gene
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Reference
MALACARDS
AR
Child
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1
4
7

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Gene & Mutation

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References Literature

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