carnosinase deficiency

carnosinase deficiency

An autosomal recessive condition characterised by severe psychomotor retardation, myotonic and grand mal seizures.
 
Management
Low-protein diet.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

carnosinase deficiency

Carnosinemia An AR condition characterized by severe psychomotor retardation, myotonic and grand mal seizures Treatment Low-protein diet
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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References in periodicals archive ?
They found that acute carnosine exposure altered mitochondrial function and it is important for future studies of carnosinase deficiency, a disease that affects several human tissues [8].
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.