Definition
Isovaleric acidemia is an organic acidemia characterized by leucine metabolism disorder, acute metabolic crises, and a characteristic odor.
Symptoms
- Acute metabolic crises
- 'Petechial foot' odor in sweat
- Vomiting
- Lethargy
Reasons
IVD gene mutation.
Diagnosis
Urine organic acids, genetic testing.
Treatment
Dietary restriction, glycine, L-carnitine.
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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