Carbamoyl phosphate synthetase deficiency
From WikiMD's Food, Medicine & Wellness Encyclopedia
A congenital disorder caused by mutations in the cps1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability.
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD