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 ?

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].

IN SITU ANALYSIS OF MITOCHONDRIAL RESPIRATORY CAPACITY --FOUNDATION FOR CELLULAR PHYSIOLOGY/IN SITU ANALIZA MITOHONDRIJALNOG RESPIRATORNOG KAPACITETA --OKOSNICA BUDUCIH ISTRAZIVANJA IZ CELIJSKE FIZIOLOGIJE

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.