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Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
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Disease definition
A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.
ORPHA:401948
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Research activities on this disease
- Research project(s) (45)
- Clinical trial(s) (2)
- Biobank(s) (9)
- Registry(ies) (26)
- Network of experts (7)
Newborn screening
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