Argininosuccinic Aciduria
Pathogenesis (Urea Cycle Disorder)
- In argininosuccinic aciduria, enzyme deficiency leads to build up of nitrogen in liver cells (from failure of urea cycle nitrogen processing) – the nitrogen leaches into the bloodstream as ammonia and results in encephalopathy/coma.
Clinical
- Onset: Birth
- Neurological manifestations: Seizures/Coma (acute), Developmental Delay (Chronic).
- Systemic manifestations: Failure to Thrive, Skin/Hair Abnormalities
Genetics
- ASL gene mutation.
- Autosomal recessive.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov