Argininosuccinate synthase deficiency, ASS deficiency, Argininosuccinic acid synthase deficiency
Citrullinemia type I is autosomal recessive
Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase, an enzyme involved in excreting excess nitrogen from the body.[1] There are mild and severe forms of the disease, which is one of the urea cycle disorders.
CitrullinemiatypeI (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase...
milder form of typeIcitrullinemia is less common in childhood or adulthood. Some people with gene mutations that cause typeIcitrullinemia never experience...
found for this gene. Mutations in the chromosome 9 copy of ASS cause citrullinemia. 40% to 90% of bladder cancers are deficient in argininosuccinate synthetase...
humans is encoded by the SLC25A13 gene. Citrin is associated with type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency...
nitric oxide synthase. Citrullinemia is an inherited autosomal recessive disease. At least 50 mutations that cause typeIcitrullinemia have been identified...
glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects Carbamoyl phosphate synthetase I deficiency Citrullinemiatype II (citrin deficiency)...
needed in patients with severe central nervous system involvement. Citrullinemia Cystinosis Cystinuria Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo...
Na+ and 1 divalent Pi are classified as NaPi IIc. Na+/I− symporter (NIS) – Sodium-Iodide is a type of symporter that is responsible for transferring iodide...
Indian childhood type; 604901; CIRH1A Citrullinemia; 215700; ASS1 Citrullinemia, adult-onset type II; 603471; SLC25A13 Citrullinemia, type II, neonatal-onset;...
Charcot–Marie–Tooth disease Cholestasis, progressive familial intrahepatic 3 Citrullinemia, type II, adult-onset, congenital bilateral absence of vas deferens cystic...
doing so in January 2011. Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn screening...
Global Information