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Examples
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Aminoacidopathies (maple syrup urine disease; homocystinuria; cobalamin deficiencies; tyrosinemia; urea cycle defects (ornithine transcarbamylase, carbamyl phosphate synthase, citrullinemia, argininosuccinic aciduria, arginase deficiencies) and non-ketotic hyperglycinemia)
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The study includes infants, toddlers and children up to the age of five, who are suffering from the most severe forms of the following UCDs: ornithine transcarbamylase (OTC) deficiency, carbamoyl-phosphate synthetase I (CPS I) deficiency or argininosuccinate-synthetase (ASS) deficiency, also called citrullinemia.
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Within 24 hours doctors gave Theda and Dawan Ferguson, the baby's father, the diagnosis: citrullinemia, a genetic disorder that can cause toxic levels of ammonia to accumulate in the bloodstream, potentially leading to coma, brain damage and death.
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The boys were born a year apart; Christian had citrullinemia but Connor did not.
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