Definition
Glutaric aciduria type I is a metabolic disease characterized by lysine and tryptophan metabolism disorders, accompanied by acute encephalopathic crises and dystonia.
Symptoms
- Macrocephaly
- Acute encephalopathic crises
- Dystonia
- Developmental delay
Reasons
GCDH gene mutation.
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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