carnosinase deficiency

(redirected from MIM 212200)

carnosinase deficiency

An autosomal recessive condition characterised by severe psychomotor retardation, myotonic and grand mal seizures.
 
Management
Low-protein diet.

carnosinase deficiency

Carnosinemia An AR condition characterized by severe psychomotor retardation, myotonic and grand mal seizures Treatment Low-protein diet