Type I citrullinemia
| Classification according to ICD-10 | |
|---|---|
| E72.2 | Urea cycle disorders - citrullinemia |
| ICD-10 online (WHO version 2019) | |
The Citrullinemia type 1 is the most common form of Citrullinemia , a rare congenital metabolic disorder with lack of argininosuccinate synthase , an enzyme of the urea cycle . The main characteristic is hyperammonaemia .
Synonyms are: ASA deficiency; Argininosuccinate synthase deficiency; CTLN1; Citrullinemia type I; Classical Citrullinemia; Citrullinuria
The first description comes from the year 1962 by the Canadian doctors WC McMurray, F. Mohuyuddin and colleagues.
distribution
The frequency is given as 1 to 9 in 100,000, inheritance is autosomal - recessive .
root cause
The disease are mutations in ASS1 - gene on chromosome 9 locus q34.11 based on which the synthase argininosuccinate coded.
Classification
Depending on the onset and severity of the symptoms, a distinction can be made:
- Acute neonatal citrullinemia type 1 , synonyms: citrullinemia, acute neonatal, type I; Classical citrullinemia type 1
- Adult citrullinemia type 1 , synonyms: citrullinemia, adult, type I; Type 1 citrullinemia, late-onset
Clinical manifestations
Clinical criteria are:
- Increase in citrulline and orotic acid , decrease in arginine
- Onset of the disease shortly after birth (acute neonatal form) or as an adolescent (adult form)
- Hyperammonaemia with progressive lethargy to coma
- Failure to thrive and vomiting (acute neonatal form)
- Anorexia , growth retardation , psychomotor retardation and seizures (adult form)
diagnosis
The diagnosis results from a blood test with evidence of an increased plasma level of ammonia and the increased excretion of orotic acid in the urine .
therapy
Treatment consists of a lifelong, highly protein-reduced diet ; in addition, arginine and sodium benzoate with phenylbutyrate can be given.
literature
- G. Karthikeyan, S. Jagadeesh, S. Seshadri, J. Häberle: Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy. In: Indian pediatrics. Volume 50, Number 10, October 2013, pp. 965-966, PMID 24222285 .
- RJ Chandler, TN Tarasenko, K. Cusmano-Ozog, Q. Sun, VR Sutton, CP Venditti, PJ McGuire: Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. In: Gene therapy . Volume 20, number 12, December 2013, pp. 1188–1191, doi: 10.1038 / gt.2013.53 , PMID 24131980 , PMC 3855546 (free full text).
Individual evidence
- ↑ a b c d e citrullinemia type 1. In: Orphanet (database for rare diseases).
- ^ WC McMurray, F. Mohyuddin, RJ Rossiter et al .: Citrullinuria: a new aminoaciduria associated with mental retardation. The Lancet , Vol. 279, p. 138 only, 1962. Note: Originally Volume I.
- ↑ Citrullinemia. In: Online Mendelian Inheritance in Man . (English)
- ↑ Acute neonatal citrullinemia type 1. In: Orphanet (Rare Diseases Database).
- ↑ Adult citrullinemia type 1. In: Orphanet (database for rare diseases).
