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Health / Urea cycle disorder / Argininosuccinate synthase / Citrullinemia / N-Acetylglutamate synthase deficiency / Hyperammonemia / Ornithine transcarbamylase deficiency / Argininosuccinic aciduria / Argininemia / Urea cycle / Metabolism / Biology


Document Date: 2003-12-03 18:40:58

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Event

Product Issues / /

Facility

University of Washington / /

IndustryTerm

carrier detection / carrier females / servlet / deficiency carrier testing / chronic medical management / carrier status / /

MedicalCondition

ataxia / complete CPSI deficiency / I Deficiency / hypoventilation / significant developmental disabilities / viral infection / neurologic signs / disease / Ornithine Transcarbamylase Deficiency / late-onset disease / urea cycle disorders / seizures / Definition Clinical Manifestations The urea cycle disorders / specific urea cycle disorder / CPSI Deficiency / plasma citrullinemia concentration / onset CPSI deficiency / Argininemia / hypothermia / coma / hallucinations / cerebral edema / respiratory alkalosis / Citrullinemia / OTC Deficiency / urea cycle disorder / lethargy / tremor / NAGS Deficiency / Summary Disease / Severe deficiency / chronic hepatic enlargement / encephalopathy / ASA deficiency / cyclical vomiting / ASS Deficiency / disorder / citrullinemia and argininosuccinic acidemia / chronic medical management / N -acetyl Glutamate Synthetase Deficiency / Argininosuccinic Acid Lysase Deficiency / hyperventilation / Deficiency / Arginase Deficiency / illness / Sleep disorders / Argininosuccinic Acid Synthetase Deficiency / disorders / fibrosis / Carbamyl Phosphate Synthetase Deficiency / genetic disorders / ASL Deficiency / ARG Deficiency / /

MedicalTreatment

bypass / counseling / /

Organization

University of Washington / National Institute of Health / /

Person

Marshall L Summar / Gene Locus Protein Carbamoylphosphate / /

Position

family and primary care physician / cofactor producer / /

Product

enzyme / /

Technology

ASL / diagnostic tests / MRI / /

URL

http /

SocialTag