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Biology / Citrullinemia / Argininosuccinate synthase / Urea cycle disorder / Hyperammonemia / Argininosuccinic acid / Arginine / Newborn screening / Citrulline / Urea cycle / Metabolism / Chemistry


Disease Name CLASSIC CITRULLINEMIA (ASS) (CITRULLINEMIA, TYPE I; CTLN1; ARGININOSUCCINATE SYNTHETASE DEFICIENCY; ASS DEFICIENCY) Urea cycle defect Classification:
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Document Date: 2007-06-25 16:35:49

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Company

CVS / /

Facility

Oregon Health Services University / /

MedicalCondition

lethargy / vomiting / hyperammonemic encephalopathy / ASS DEFICIENCY / seizures / ARGININOSUCCINATE SYNTHETASE DEFICIENCY / nutritional deficiency / hypothermia / MS / coma / cerebral edema / encephalopathy and respiratory alkalosis / CITRULLINEMIA / Name CLASSIC CITRULLINEMIA / Progressive encephalopathy proceeding / apnea / /

MedicalTreatment

protein-restricted diet / hemodialysis / /

Organization

Oregon Health Services University in Portland / /

Person

Lorinda Paradise / Sara Copeland / Judith Tuerck / /

ProvinceOrState

Oregon / Iowa / /

PublishedMedium

Natural History / /

URL

www.rarediseases.org/search/rdbdetail_abstract.html?disname=Citrullinemia / www.icondata.com/health/pedbase/files/CITRULLI.HTM / /

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