Amino Acid Disorders

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Disease Name Citrullinemia
Alternate name(s) Argininosuccinic acid synthetase deficiency
Acronym ASAS
Disease Classification Amino Acid Disorder
Variants Yes
Variant name Citrullinemia type II (adult and neonatal onset forms) – caused by SLC25A13 mutations
Symptom onset Neonatal with some variability
Symptoms Potential lethal coma, seizures, anorexia, vomiting, lethargy, apnea and hypertonia. Possible enlarged liver.
Natural history without treatment Mental retardation due to hyperammonemia.
Natural history with treatment Normal IQ and development are possible if no damage from initial or subsequent hyperammonemic episodes.
Treatment Management of hyperammonemic cases with sodium benzoate and/or phenylacetate and arginine. Dietary restriction of protein, arginine and essential amino acid supplementation.
Other N/A
Physical phenotype None
Inheritance Autosomal recessive
General population incidence Rare
Ethnic differences Yes
Population Citrullinemia type II is common in Japan
Ethnic incidence N/A
Enzyme location Widely expressed in tissues; liver, kidney and fibroblasts.
Enzyme Function Catalyzes the conversion of citrulline and aspartic acid to argininosuccinic acid.
Missing Enzyme Argininosuccinic acid synthetase
Metabolite changes Hyperammonemia
Gene CTLN1
Gene location 9q34
DNA testing available Yes
DNA testing detail Linkage analysis
Prenatal testing Linkage analysis and enzyme testing
MS/MS Profile N/A
Genetests Link
Support Group National Urea Cycle Disorders Foundation

National Coalition for PKU and Allied Disorders

Children Living with Inherited Metabolic Diseases
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