Hyperammonaemia

Causes

Appropriate Tests

 

Ammonia.

Neonatal and paediatric

 

Transient neonatal hyperammonaemia

 

Urea cycle defects

  • Ornithine transcarbamylase deficiency

Amino acids urine (orotic acid).

Lysinuric protein intolerance

Amino acids urine.

Reye's syndrome

 

Organic acidaemias

 

Hepatic failure

 

Adult

 

Hepatic failure

 

Portosystemic shunts

 

Urea cycle defects, especially

  • Mild variants of paediatric forms
  • Type ll citrullinamaemia

Amino acids urine (orotic acid).