Carnosinemia, Seizures and Psychomotor Retardation

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Abstract
Carnosine (β-alanyl histidine) and anserine (βalanyl-1-methyl histidine), which are normal constituents of muscle, are thought to function mainly as buffers in stabilizing muscle pH.1 Carnosine is found in the skeletal muscle of all mammals and birds, but human tissues do not contain anserine. Evidence is now emerging that these compounds may be of pertinence in 2 types of progressive disorders of the central nervous system. In 1962 Bessman and Baldwin2 found increased urinary excretion of carnosine and anserine, as well as histidine and 1-methyl histidine in 5 patients with juvenile amaurotic idiocy who came from 3 separate families (Group 1). . . .

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