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A PERSPECTIVE REVIEW ON CARNOSINEMIA
Corresponding Author(s) : Shivam Choudghal
International Journal of Allied Medical Sciences and Clinical Research,
Vol. 9 No. 3 (2021): 2021 Volume - 9 Issue - 3
Abstract
An inherited metabolic condition characterised by extreme mental defect and myoclonic seizures. Serum Carnosinase Deficiency; Beta-Alanine-Pyruvate Aminotransferase; Hyper-Beta Carnosinemia. Just about ten cases have been reported. The mutation on 18q21.3 causes autosomal recessive transmission. In some of the instances, parental consanguinity has been reported. A deficiency in carnosinase function causes a progressive neurologic condition with a variable phenotype that includes extreme mental retardation, myoclonic seizures, tremor, and hypotonia. As a result of demyelinization and reactive fibrosis, autopsy findings in the central nervous system may include extreme axonal degeneration, loss of Purkinje fibres, and neuraxonal spheroids in the grey matter. Meat contains large amounts of carnosine, a dipeptide of histidine and alanine. A strict meat-free diet can help to alleviate symptoms but does not cure the disease. Carnosine levels in the blood and urine are elevated when carnosinase is deficient.
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References
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