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 |
| OMIM Link | http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215700 |
| Genetests Link | www.genetests.org |
| Support Group |
National Urea Cycle Disorders Foundation http://www.nucdf.org/ National Coalition for PKU and Allied Disorders http://www.pku-allieddisorders.org/ Children Living with Inherited Metabolic Diseases http://www.climb.org.uk/ |
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