citrullinemia type 1
Jump to navigation
Jump to search
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