Citrullinemia, Adult-Onset Type Ii malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases
Aliases & Descriptions for Citrullinemia, Adult-Onset Type Ii:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Age of onset: Adult
citrullinemia, adult-onset type ii:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Inborn errors of metabolism
NIH Rare Diseases:45 Adult-onset citrullinemia type ii is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. the condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. these signs and symptoms can be life-threatening. the signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. the features of adult-onset type ii citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (niccd). in many cases, the signs and symptoms of niccd resolve within a year. years or even decades later, however, some of these people develop the characteristic features of adult-onset type ii citrullinemia. adult-onset citrullinemia type ii is caused by mutations in the slc25a13 gene. this condition is inherited in an autosomal recessive pattern. last updated: 7/11/2011
MalaCards based summary: Citrullinemia, Adult-Onset Type Ii, also known as citrin deficiency, is related to citrullinemia, type ii, neonatal-onset and neonatal intrahepatic cholestasis due to citrin deficiency, and has symptoms including elevated hepatic transaminases, cerebral edema and hypertriglyceridemia. An important gene associated with Citrullinemia, Adult-Onset Type Ii is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include brain and liver.
UniProtKB/Swiss-Prot:67 Citrullinemia 2: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years.
OMIM:49 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden... (603471) more...
GeneReviews summary for NBK1181
HPO human phenotypes related to Citrullinemia, Adult-Onset Type Ii:(show all 9)
MalaCards organs/tissues related to Citrullinemia, Adult-Onset Type Ii:33
Clinvar genetic disease variations for Citrullinemia, Adult-Onset Type Ii:5
Search GEO for disease gene expression data for Citrullinemia, Adult-Onset Type Ii.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet