Carnosinemia

Carnosinemia
Other namesCarnosinase deficiency[1] or Aminoacyl-histidine dipeptidase deficiency,[2]
Carnosine

Carnosinemia is a rare autosomal recessive[3] metabolic disorder[4] caused by a deficiency of carnosinase, a dipeptidase (a type of enzyme that splits dipeptides into their two amino acid constituents).[5]

Carnosine is a dipeptide composed of beta-alanine and histidine, and is found in skeletal muscle and cells of the nervous system.[6] This disorder results in an excess of carnosine in the urine, cerebrospinal fluid, blood, and nervous tissue.[7] Neurological disorders associated with a deficiency of carnosinase, and the resulting carnosinemia ("carnosine in the blood") are common.[3][8][9]

  1. ^ Online Mendelian Inheritance in Man (OMIM): 212200
  2. ^ Diseases Database (DDB): 29672
  3. ^ a b 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. PMID 9029640.
  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. PMID 6058610.
  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. PMID 17601992.
  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. PMID 17316626. S2CID 46535145.
  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. PMID 2358806.
  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. PMID 4673339. S2CID 31717219.
  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. PMID 7266778.