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Citrullinemia type I
Disease definition
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, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).
ORPHA:247525
Classification level: Disorder- Synonym(s):
- ASS deficiency
- Argininosuccinate synthase deficiency
- Argininosuccinate synthetase deficiency
- Argininosuccinic acid synthase deficiency
- Argininosuccinic acid synthetase deficiency
- CTLN1
- Citrullinemia type 1
- Classic citrullinemia
- Prevalence: 1-9 / 100 000
- Inheritance: Autosomal recessive
- Age of onset: All ages
- ICD-10: E72.2
- OMIM: 215700
- UMLS: C0751751
- MeSH: -
- GARD: -
- MedDRA: 10058298
Detailed information
Article for general public
Professionals
- Summary information
- Greek (2012, pdf)
- Emergency guidelines
- English (2012, pdf)
- Anesthesia guidelines
- English (2020, pdf)
- Clinical practice guidelines
- English (2012)
- Deutsch (2012)
- Clinical genetics review
- English (2016)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.