Definition
Pyruvate dehydrogenase deficiency is a metabolic disease characterized by pyruvate metabolism disorder, lactic acidosis, and neurological disorders.
Symptoms
- Lactic acidosis
- Neurological decline
- Hypotonia
- Convulsions
Reasons
PDHA1 and other gene mutations.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Ketogenic diet, thiamine.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of metabolic acidosis, emergency services should be consulted.
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