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Rare diseases / Urea cycle disorder / Citrullinemia / Newborn screening / Medical genetics / Argininosuccinate synthase / Argininosuccinic aciduria / Carbamoyl phosphate synthetase I deficiency / Medicine / Health / Urea cycle


Citrullinemia (CIT) A urea cycle disorder What is it? Citrullinemia (also known as argininosuccinic acid synthetase deficiency (CIT)) is a urea cycle disorder. People with urea cycle disorders, like CIT, cannot properly
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Document Date: 2007-09-13 15:35:42


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St. Louis / /

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Facility

Children’s Hospital / University Hospital / Hospital St. Louis / American College of Medical Genetics Newborn Screening ACT Sheets / Children’s Mercy Hospital / Cardinal Glennon Children’s Hospital / /

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IndustryTerm

elevated chemicals / chemical / chemical called ammonia / energy / /

MedicalCondition

seizures / urea cycle disorders / coma / Citrullinemia / urea cycle disorder / autosomal recessive disorder / metabolic disorders / argininosuccinic acid synthetase deficiency / /

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What is it? / /

Organization

National Urea Cycle Disorders Foundation / Children’s Mercy Hospital Kansas City / American College of Medical Genetics Newborn Screening ACT Sheets / St. Louis Children’s Hospital St. Louis / University Hospital / Children’s Hospital / Save Babies Through Screening Foundation / /

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Position

care physician / physician / /

ProvinceOrState

Missouri / Pennsylvania / California / /

Technology

http / /

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http /

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