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


Disease Name Citrullinemia type I Alternate name(s) Acronym
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Document Date: 2014-09-09 05:10:27

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Company

Link Genetests Link Support Group / /

Facility

American College of Medical Genetics / /

MedicalCondition

lethargy / recessive Rare Yes Citrullinemia / Allied Disorders / treatment Treatment Mental retardation / lethal coma / vomiting / Inherited Metabolic Diseases / MS / Name Citrullinemia / acid synthetase deficiency ASAS Amino Acid Disorder Variants Yes Variant name Citrullinemia / seizures / apnea / /

Organization

American College of Medical Genetics / Coalition for PKU / /

Position

Physical phenotype Inheritance General / /

URL

http /

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