Argininemia
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Alias
- Arginase deficiency
- Hyperargininemia
Clinical signs
- Autosomal recessive inheritance
- Behaviour disorder/autism
- Mental retardation (moderate/severe)
- Metabolism of aminoacids abnormal
- Speech defect
- E.E.G.abnormality
- Hyperammonaemia
- Paraparesis/quadraparesis
- Seizures ( any type)
Update : 15/04/2007
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