carnosinase deficiency

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
References in periodicals archive ?
A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency.