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Rare diseases / Biology / Argininosuccinic aciduria / Urea cycle disorder / Argininosuccinate lyase / Argininosuccinate synthase / Hyperammonemia / Argininosuccinic acid / Adenylosuccinate lyase deficiency / Urea cycle / Health / Metabolism


Disease Name ARGININOSUCCINIC ACIDURIA (ASA) (ARGININOSUCCINASE DEFICIENCY; ARGININOSUCCINATE LYASE DEFICIENCY; ASL DEFICIENCY; ARGININOSUCCINIC ACID LYASE DEFICIENCY) Urea cycle defect Classification:
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Document Date: 2007-06-25 16:35:48


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Company

CVS / /

Facility

Oregon Health Services University / /

MedicalCondition

microcephaly / hyperammonemic encephalopathy / mental retardation / hyperammonemic coma / episodic coma / seizures / ARGININOSUCCINASE DEFICIENCY / late onset disease / liver failure / coma / hypothermia / cerebral edema / neurological dysfunction / respiratory alkalosis / cirrhosis / ARGININOSUCCINATE LYASE DEFICIENCY / non-specific mental retardation / lethargy / hepatic dysfunction / vomiting / secondary deficiency / illness / MS / arginine deficiency / enzyme deficiency / ASL DEFICIENCY / ARGININOSUCCINIC ACID LYASE DEFICIENCY / /

MedicalTreatment

low protein diet / hemodialysis / Liver transplant / /

Organization

Oregon Health Services University in Portland / /

Person

Sara Copeland / Judith Tuerck / Lorinda Paradise / /

ProvinceOrState

Oregon / Iowa / /

PublishedMedium

Natural History / /

Technology

ASL / /

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