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Citrullinemia type I
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I).
ORPHA:247525
Classification level: Disorder
- ASS deficiency
- Argininosuccinate synthase deficiency
- Argininosuccinate synthetase deficiency
- Argininosuccinic acid synthase deficiency
- Argininosuccinic acid synthetase deficiency
- CTLN1
- Citrullinemia type 1
- Classic citrullinemia
Source: PubMed ID 31469252
Prevalence: 1-9 / 100 000
Inheritance: Autosomal recessive
Age of onset: All ages
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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