Definition
Propionic acidemia is an organic acidemia characterized by propionyl-CoA carboxylase enzyme deficiency and progressing with metabolic acidosis and hyperammonemia.
Symptoms
- Metabolic acidosis
- Hyperammonemia
- Neutropenia
- Developmental delay
Reasons
PCCA or PCCB gene mutations.
Diagnosis
Urine organic acids, genetic testing.
Treatment
Dietary restriction, L-carnitine.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of metabolic crisis, emergency services should be consulted.
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