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citrullinemia type 1
Pathology:
- defects in urea cycle lead to hyperammonemia
Genetics:
- autosomal recessive
- associated with defects in ASS1
Clinical manifestations:
- usually manifests in the 1st few days of life
- affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures & loss of consciousness
- less commonly, a milder CTLN1 form can develop later in childhood or adulthood
Laboratory:
- elevated plasma & urine citrulline levels
- hyperammonemia
- ASS1 gene mutation
- argininosuccinate synthase measurement
Related
citrulline
General
citrullinemia
Database Correlations
OMIM 215700
References
OMIM :accession 215700