PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

Shahrour MA, Lasorsa FM,Porcelli V,Dweikat I, Di Noia MA,Gur M,Agostino G,Shaag A,Rinaldi T,Gasparre G,Guerra F,Castegna A,Todisco S,Abu-Libdeh B,Elpeleg O,Palmieri L

Yearbook of pediatric endocrinology（2022）

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Brief Summary: This is a case report of a potentially new genetic disorder that causes hyperinsulinaemic hypoglycemia, protein sensitivity and high serum ammonia level (Hyperinsulinism/hyperammonemia syndrome (HI/HA) syndrome). Mutations in the solute the carrier family 25, member 36 (SLC25A36) may be a novel cause of HI/HA syndrome but more patients need to be identified.

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hyperinsulinism/hyperammonemia syndrome,deficiency,pnc2

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