Type II citrullinemia
| Classification according to ICD-10 | |
|---|---|
| E72.2 | Urea cycle disorders - citrullinemia |
| ICD-10 online (WHO version 2019) | |
The Citrullinemia type II is a rare, often in Japan occurring form of Citrullinemia , a rare congenital metabolic disorder with lack of argininosuccinate synthase , an enzyme of the urea cycle . The main feature is hyperammonaemia , the course is less pronounced.
Synonyms are: citrullinemia, adult, type 2; CTLN2; Citrine deficiency, adult
Most of the reports are in Japanese and date from the 1970s.
distribution
The incidence is estimated to be 1 in 100,000-230,000, clustered in Japan. Inheritance is autosomal - recessive .
root cause
The disease are mutations in SLC25A13 - gene on chromosome 7 locus q21.3 basis.
Clinical manifestations
Clinical criteria are:
- Onset of illness in adulthood
- Episodes of hyperammonaemia with states of restlessness, neuropsychiatric abnormalities, memory loss and even coma
There is also a neonatal form with failure to thrive , short stature , liver dysfunction, intrahepatic cholestasis , hepatomegaly , coagulation disorder , hemolytic anemia and hypoglycemia .
diagnosis
The diagnosis results from the blood test and can be confirmed by the mutation detection.
therapy
Liver transplantation is an option .
literature
- JJ Choi, HS Kim, KC Lee, Y. Shin, YY Jo: Anesthetic experience of an adult male with citrullinemia type II: a case report. In: BMC anesthesiology. Volume 16, number 1, 10 2016, p. 92, doi: 10.1186 / s12871-016-0253-7 , PMID 27724842 , PMC 5057249 (free full text).
- G. Fiermonte, D. Soon, A. Chaudhuri, E. Paradies, PJ Lee, S. Krywawych, F. Palmieri, RH Lachmann: An adult with type 2 citrullinemia presenting in Europe. In: The New England Journal of Medicine . Volume 358, Number 13, March 2008, pp. 1408-1409, doi: 10.1056 / NEJMc0707353 , PMID 18367750 .
Individual evidence
- ↑ a b c citrullinemia type II. In: Orphanet (database for rare diseases).
- ↑ H. Wick, C. Bachmann, R. Baumgartner, T. Brechbühler, JP Colombo, U. Wiesmann, MJ Mihatsch, H. Ohnacker: Variants of citrullinaemia. In: Archives of Disease in Childhood. Volume 48, Number 8, August 1973, pp. 636-641, PMID 4783005 , PMC 1648609 (free full text).
- ↑ I. Matsuda, M. Anakura, p Arashima, Y. Saito, Y. Oka: A variant form of citrullinemia. In: The Journal of pediatrics. Volume 88, Number 5, May 1976, pp. 824-826, PMID 1271146 .
- ^ Genetics Home Reference
- ↑ Citrullinemia, adult-onset type II. In: Online Mendelian Inheritance in Man . (English)
- ↑ Neonatal intrahepatic cholestasis due to citrine deficiency. In: Orphanet (Rare Disease Database).
- ↑ HH Tan, WC Chow, KH Lim, WK Wan, AY Chung, PC Cheow, CK Tan: Liver transplantation in an adult with citrullinaemia type 2. In: Journal of transplantation. Volume 2011, 2011, p. 176370, doi: 10.1155 / 2011/176370 , PMID 21647347 , PMC 3103874 (free full text).
