Pyruvate dehydrogenase E1-beta deficiency
An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.
Name | Development Level | Target Family |
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Name | Description |
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TCRDv4.6.9
UniProt Disease
UniProt Disease