Hepato

Question 1

DDX of congenital hepatic disorders in neonatal foals ?

Answer 1

• Glycogen storage disease type IV : fatal recessive inherited deficiency of the glycogen branching enzyme (GBE) → QH foals. Mutation of GBE1 gene.
• Persistent hyperammonemia : inherited disorder of hepatic ammonia (and other aa) metabolism, associated with encephalopathy in Morgan foals. Clinical signs after weaning → 4-7 months of age.
• Congenital fibrosis : Swiss Franches-Montagnes. Ictere + encephalopathy
• Portosystemic shunt : infrequent shunting of blood directly from the portal circulation to the systemic circulation. Located intra- or extra-hepatic. Clinical signs of encephalopathy with marked increased of serum ammonia (NH3)