A PERSPECTIVE REVIEW ON CARNOSINEMIA
Corresponding Author(s) : Shivam Choudghal
shivamchadgal@gmail.com
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.
Keywords
Carnosinase
Autosomal recessive transmission
myoclonic seizures
tremor
1.
Shivam Choudghal, Dr.C.Revathi M.Sc.(N), Ph.D.(N), Dr.B.Senthilkumar, Henrita Boro, Saksham Kumar, Drishti Sharma, et al. A PERSPECTIVE REVIEW ON CARNOSINEMIA. Int. J. of Allied Med. Sci. and Clin. Res. [Internet]. 2021 Aug. 21 [cited 2025 Nov. 12];9(3):493-6. Available from: https://ijamscr.com/ijamscr/article/view/1054
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References
-
[1] Online Mendelian Inheritance in Man (OMIM): 212200.
[2] Diseases Database (DDB): 29672.
[3] Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR (1997). A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Pediatr. Res. 41 (2): 210–213. doi:10.1203/00006450-199702000-00009.
[4] Perry TL, Hansens S, Tischler B, Bunting R, Perry K (1967). Carnosinemia. A new metabolic disorder associated with neurological disease and mental defect. N. Engl. J. Med. 277 (23): 1219–1227. doi:10.1056/NEJM196712072772302.
[5] Sauerheifer S, Yuan G, Braun GS, Deiner RM, Neumaier M, Gretz N, Floege J, Kriz R, van der Woude F, Moeller MJ (2007). L-carnosine, a substrate of carnosinase-1, influences glucose metabolism. Diabetes. 56 (10): 2425–2432. doi:10.2337/db07-0177.
[6] Rashid I, van Reyk DM, Davies MJ (2007). Carnosine and its constituents inhibit glycation of low-density lipoproteins that promotes foam cell formation in vitro. FEBS Lett. 581 (5): 1067–1070. doi:10.1016/j.febslet.2007.01.082.
[7] Gjessing LR, Lunde HA, Morkrid L, Lenney JF, Sjaastad O (1990). Inborn errors of carnosine and homocarnosine metabolism. J Neural Transm Suppl. 29: 91–106. doi:10.1007/978-3-7091-9050-0_10. ISBN 978-3-211-82142-8.
[8] Terplan KL, Cares HL (1972). Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. Neurology. 22 (6): 644–655. doi:10.1212/wnl.22.6.644.
[9] Wisniewski K, Fleisher L, Rassin D, Lassmann H (1981). Neurological diseases in a child with carnosinase deficiency. Neuropediatrics. 12 (2): 143–151. doi:10.1055/s-2008-1059647.
[10] https://rarediseases.org/rare-diseases/carnosinemia/
[11] Jackson MC, Kucera CM, Lenney JF (1991). Purification and properties of human serum carnosinase. Clin Chim Acta. 196 (2–3): 193–205. doi:10.1016/0009-8981(91)90073-L.
[12] Lenney JF, Peppers SC, Kucera-Orallo CM, George RP (1985). Characterization of human tissue carnosinase. Biochem. J. 228 (3): 653–660. doi:10.1042/bj2280653.
[13] Lenney JF (1990). Separation and characterization of two carnosine-splitting cytosolic dipeptides from hog kidney (carnosinase and non-specific dipeptidase). Biol Chem Hoppe-Seyler. 371 (5): 433–440. doi:10.1515/bchm3.1990.371.1.433.
[14] Lenney JF, George RP, Weiss AM, Kucera CM, Chan PW, Rinz GS (1982). Human serum carnosinase: characterization, distinction from cellular carnosinase and activation by cadmium. Clin Chim Acta. 123 (3): 221–231. doi:10.1016/0009-8981(82)90166-8.
[15] Peppers SC, Lenney JF (1988). Bestatin inhibition of human tissue carnosinase, a non-specific cytosolic dipeptidase. Biol Chem Hoppe-Seyler. 369 (12): 1281–1286. doi:10.1515/bchm3.1988.369.2.1281.
[16] Lenney JF (1990). Human cytosolic carnosinase: evidence of identity with prolinase, a non-specific dipeptidase. Biol Chem Hoppe-Seyler. 371 (2): 167–171. doi:10.1515/bchm3.1990.371.1.167.
[17] van Heeswijk PJ, Trijbels JM, Schretlen ED, van Munster PJ, Monnens LA (1969). A patient with a deficiency of serum-carnosinase activity. Acta Paediatr. Scand. 58 (6): 584–592. doi:10.1111/j.1651-2227.1969.tb04766.x.
[18] Lenney JF, Peppers SC, Kucera CM, Sjaastad O (1983). Homocarnosinosis: lack of serum carnosinase is the deficiency probably responsible for elevated brain and CSF homocarnosine. Clin Chim Acta. 132 (2): 157–165. doi:10.1016/0009-8981(83)90243-7.
References
[1] Online Mendelian Inheritance in Man (OMIM): 212200.
[2] Diseases Database (DDB): 29672.
[3] Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR (1997). A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Pediatr. Res. 41 (2): 210–213. doi:10.1203/00006450-199702000-00009.
[4] Perry TL, Hansens S, Tischler B, Bunting R, Perry K (1967). Carnosinemia. A new metabolic disorder associated with neurological disease and mental defect. N. Engl. J. Med. 277 (23): 1219–1227. doi:10.1056/NEJM196712072772302.
[5] Sauerheifer S, Yuan G, Braun GS, Deiner RM, Neumaier M, Gretz N, Floege J, Kriz R, van der Woude F, Moeller MJ (2007). L-carnosine, a substrate of carnosinase-1, influences glucose metabolism. Diabetes. 56 (10): 2425–2432. doi:10.2337/db07-0177.
[6] Rashid I, van Reyk DM, Davies MJ (2007). Carnosine and its constituents inhibit glycation of low-density lipoproteins that promotes foam cell formation in vitro. FEBS Lett. 581 (5): 1067–1070. doi:10.1016/j.febslet.2007.01.082.
[7] Gjessing LR, Lunde HA, Morkrid L, Lenney JF, Sjaastad O (1990). Inborn errors of carnosine and homocarnosine metabolism. J Neural Transm Suppl. 29: 91–106. doi:10.1007/978-3-7091-9050-0_10. ISBN 978-3-211-82142-8.
[8] Terplan KL, Cares HL (1972). Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. Neurology. 22 (6): 644–655. doi:10.1212/wnl.22.6.644.
[9] Wisniewski K, Fleisher L, Rassin D, Lassmann H (1981). Neurological diseases in a child with carnosinase deficiency. Neuropediatrics. 12 (2): 143–151. doi:10.1055/s-2008-1059647.
[10] https://rarediseases.org/rare-diseases/carnosinemia/
[11] Jackson MC, Kucera CM, Lenney JF (1991). Purification and properties of human serum carnosinase. Clin Chim Acta. 196 (2–3): 193–205. doi:10.1016/0009-8981(91)90073-L.
[12] Lenney JF, Peppers SC, Kucera-Orallo CM, George RP (1985). Characterization of human tissue carnosinase. Biochem. J. 228 (3): 653–660. doi:10.1042/bj2280653.
[13] Lenney JF (1990). Separation and characterization of two carnosine-splitting cytosolic dipeptides from hog kidney (carnosinase and non-specific dipeptidase). Biol Chem Hoppe-Seyler. 371 (5): 433–440. doi:10.1515/bchm3.1990.371.1.433.
[14] Lenney JF, George RP, Weiss AM, Kucera CM, Chan PW, Rinz GS (1982). Human serum carnosinase: characterization, distinction from cellular carnosinase and activation by cadmium. Clin Chim Acta. 123 (3): 221–231. doi:10.1016/0009-8981(82)90166-8.
[15] Peppers SC, Lenney JF (1988). Bestatin inhibition of human tissue carnosinase, a non-specific cytosolic dipeptidase. Biol Chem Hoppe-Seyler. 369 (12): 1281–1286. doi:10.1515/bchm3.1988.369.2.1281.
[16] Lenney JF (1990). Human cytosolic carnosinase: evidence of identity with prolinase, a non-specific dipeptidase. Biol Chem Hoppe-Seyler. 371 (2): 167–171. doi:10.1515/bchm3.1990.371.1.167.
[17] van Heeswijk PJ, Trijbels JM, Schretlen ED, van Munster PJ, Monnens LA (1969). A patient with a deficiency of serum-carnosinase activity. Acta Paediatr. Scand. 58 (6): 584–592. doi:10.1111/j.1651-2227.1969.tb04766.x.
[18] Lenney JF, Peppers SC, Kucera CM, Sjaastad O (1983). Homocarnosinosis: lack of serum carnosinase is the deficiency probably responsible for elevated brain and CSF homocarnosine. Clin Chim Acta. 132 (2): 157–165. doi:10.1016/0009-8981(83)90243-7.
[2] Diseases Database (DDB): 29672.
[3] Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR (1997). A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Pediatr. Res. 41 (2): 210–213. doi:10.1203/00006450-199702000-00009.
[4] Perry TL, Hansens S, Tischler B, Bunting R, Perry K (1967). Carnosinemia. A new metabolic disorder associated with neurological disease and mental defect. N. Engl. J. Med. 277 (23): 1219–1227. doi:10.1056/NEJM196712072772302.
[5] Sauerheifer S, Yuan G, Braun GS, Deiner RM, Neumaier M, Gretz N, Floege J, Kriz R, van der Woude F, Moeller MJ (2007). L-carnosine, a substrate of carnosinase-1, influences glucose metabolism. Diabetes. 56 (10): 2425–2432. doi:10.2337/db07-0177.
[6] Rashid I, van Reyk DM, Davies MJ (2007). Carnosine and its constituents inhibit glycation of low-density lipoproteins that promotes foam cell formation in vitro. FEBS Lett. 581 (5): 1067–1070. doi:10.1016/j.febslet.2007.01.082.
[7] Gjessing LR, Lunde HA, Morkrid L, Lenney JF, Sjaastad O (1990). Inborn errors of carnosine and homocarnosine metabolism. J Neural Transm Suppl. 29: 91–106. doi:10.1007/978-3-7091-9050-0_10. ISBN 978-3-211-82142-8.
[8] Terplan KL, Cares HL (1972). Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. Neurology. 22 (6): 644–655. doi:10.1212/wnl.22.6.644.
[9] Wisniewski K, Fleisher L, Rassin D, Lassmann H (1981). Neurological diseases in a child with carnosinase deficiency. Neuropediatrics. 12 (2): 143–151. doi:10.1055/s-2008-1059647.
[10] https://rarediseases.org/rare-diseases/carnosinemia/
[11] Jackson MC, Kucera CM, Lenney JF (1991). Purification and properties of human serum carnosinase. Clin Chim Acta. 196 (2–3): 193–205. doi:10.1016/0009-8981(91)90073-L.
[12] Lenney JF, Peppers SC, Kucera-Orallo CM, George RP (1985). Characterization of human tissue carnosinase. Biochem. J. 228 (3): 653–660. doi:10.1042/bj2280653.
[13] Lenney JF (1990). Separation and characterization of two carnosine-splitting cytosolic dipeptides from hog kidney (carnosinase and non-specific dipeptidase). Biol Chem Hoppe-Seyler. 371 (5): 433–440. doi:10.1515/bchm3.1990.371.1.433.
[14] Lenney JF, George RP, Weiss AM, Kucera CM, Chan PW, Rinz GS (1982). Human serum carnosinase: characterization, distinction from cellular carnosinase and activation by cadmium. Clin Chim Acta. 123 (3): 221–231. doi:10.1016/0009-8981(82)90166-8.
[15] Peppers SC, Lenney JF (1988). Bestatin inhibition of human tissue carnosinase, a non-specific cytosolic dipeptidase. Biol Chem Hoppe-Seyler. 369 (12): 1281–1286. doi:10.1515/bchm3.1988.369.2.1281.
[16] Lenney JF (1990). Human cytosolic carnosinase: evidence of identity with prolinase, a non-specific dipeptidase. Biol Chem Hoppe-Seyler. 371 (2): 167–171. doi:10.1515/bchm3.1990.371.1.167.
[17] van Heeswijk PJ, Trijbels JM, Schretlen ED, van Munster PJ, Monnens LA (1969). A patient with a deficiency of serum-carnosinase activity. Acta Paediatr. Scand. 58 (6): 584–592. doi:10.1111/j.1651-2227.1969.tb04766.x.
[18] Lenney JF, Peppers SC, Kucera CM, Sjaastad O (1983). Homocarnosinosis: lack of serum carnosinase is the deficiency probably responsible for elevated brain and CSF homocarnosine. Clin Chim Acta. 132 (2): 157–165. doi:10.1016/0009-8981(83)90243-7.