Citrullinemia

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Classification according to ICD-10
E72.2 Urea cycle disorders - citrullinemia
ICD-10 online (WHO version 2019)

The Citrullinemia (of citrulline and ancient Greek αἷμα Haema , German , blood ' ) is a very rare congenital metabolic disorder with lack of argininosuccinate synthase , an enzyme of the urea cycle .

Synonyms : argininosuccinate synthetase deficiency; Arginino succinate synthetase deficiency; Citrullinemia; English CIT; Citrullinuria

The first description and naming comes from the year 1962 by the Canadian doctors WC McMurray, F. Mohuyuddin and colleagues.

distribution

The frequency is given as around 1 in 250,000, inheritance is autosomal - recessive .

The disease can also occur in the context of a syndrome : hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , synonyms: HHH syndrome; ORNT1 deficiency; Ornithine translocase deficiency; Ornithine transporter deficiency; Triple H Syndrome

Classification

The following forms or types can be distinguished:

  • Citrullinaemia type I , synonym: Classical citrullinaemia
    • 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
  • Citrullinaemia type II , synonyms: citrullinaemia, adult, type 2; CTLN2; Citrine deficiency, adult
    • Neonatal intrahepatic cholestasis due to citrine deficiency

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis comes from the blood test .

literature

  • HI Woo, HD Park, YW Lee: Molecular genetics of citrullinemia types I and II. In: Clinica Chimica Acta . Volume 431, April 2014, pp. 1-8, doi : 10.1016 / j.cca.2014.01.032 , PMID 24508627 (review).
  • N. Kimura, N. Kubo, S. Narumi, Y. Toyoki, K. Ishido, D. Kudo, M. Umehara, Y. Yakoshi, K. Hakamada: Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature. In: Transplantation proceedings. Volume 45, Number 9, November 2013, pp. 3432-3437, doi : 10.1016 / j.transproceed.2013.06.016 , PMID 24182831 (review).

Individual evidence

  1. ↑ a b c citrullinemia. In: Orphanet (Rare Disease Database).
  2. ^ 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.
  3. ↑ a b emedicine
  4. ↑ Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome. In: Orphanet (Rare Disease Database).
  5. ↑ Acute neonatal citrullinemia type 1. In: Orphanet (Rare Diseases Database).
  6. ↑ Adult citrullinemia type 1. In: Orphanet (database for rare diseases).
  7. ↑ Neonatal intrahepatic cholestasis due to citrine deficiency. In: Orphanet (Rare Disease Database).

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