citrullinemia
Sign in to saveAlso known as ASS deficiency, deficiency of citrulline-aspartate ligase
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.
Key facts
- Medical condition (new).name
- Citrullinemia
- Medical condition (new).synonyms
- Citrullinuria
- Medical condition (new).image
- Citrulline.png
- Medical condition (new).caption
- L-Citrulline
- Medical condition (new).field
- Medical genetics
- Medical condition (new).symptoms
- Extreme sleepiness, no appetite, irritability, vomiting, muscle weakness, breathing problems.
via Wikipedia infobox
Research
809 papers- Early prediction of phenotypic severity in Citrullinemia Type 1.Annals of clinical and translational neurology · 2019
- Citrullinemia and What Else?Endocrine, metabolic & immune disorders drug targets · 2023
- [Adult-onset citrullinemia].No to shinkei = Brain and nerve · 2007
- [Adult-onset citrullinemia].Brain and nerve = Shinkei kenkyu no shinpo · 2007
- Adult-onset type II citrullinemia: Current insights and therapy.The application of clinical genetics · 2018
via PubMed
~5 min read
Encyclopedic overview
7 sectionsContents
- Type I
- Adolescent and adult citrin deficiency (formerly Type II citrullinemia)
- Treatment
- See also
- References
- Further reading
- External links
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.
Two forms of citrullinemia have been described, both having different signs, symptoms, and management, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions taking place in the liver. These reactions convert toxic ammonia, generated during the breakdown of amino acids, into urea, which is excreted by the kidneys.
Excerpted from Wikipedia’s “citrullinemia” article, available under the CC BY-SA 4.0 licence.