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
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References in periodicals archive ?
Holden, "A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency," Pediatric Research, vol.
Lassmann, "Neurological disease in a child with carnosinase deficiency," Neuropediatrics, vol.
Use of Carnosine for Oxidative Stress Reduction in Different Pathologies

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