Summary
Serum carnosinase deficiency with carnosinuria has been reported in 23 children with neurological signs and/or mental retardation. In adults four cases in one family had serum carnosinase deficiency, carnosinuria, and in addition elevated homocarnosine in CSF and in the brain. The mother was one of these cases but had no clinical symptoms; however her three children have spastic paraparesis, retinitis pigmentosa and mental retardation. Serum carnosinase deficiency alone is not the cause of the neurological symptoms. When two of the affected children consumed carnosine, anserine or homocarnosine, they metabolized these compounds much less rapidly than did two normal control individuals.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Abraham D, Pisano JJ, Udenfriend S (1962) The distribution of homocarnosine in mammals. Arch Biochem Biophys 99: 210–213.
Ames BN (1983) Dietary carcinogens and anticarcinogens. Oxygen radicals and degenerative diseases. Science 221: 1256–1264.
Bessman SP, Baldwin R (1962) Imidazole aminoaciduria in cerebromacular degeneration. Science 135: 789–791.
Burgess EA, Oberholzer VG, Palmer T, Levin B (1975) Plasma carnosinase deficiency in patients with urea cycle defects. Clin Chim Acta 61: 215–218.
Cohen M, Hartlage PL, Krawiecki N, Roesel RA, Carter AL, Hommes FA (1985) Serum carnosinase deficiency: a non-disabling phenotype? J Ment Defic Res 29: 383–389.
Crush KG (1970) Carnosine and related substances in animal tissues. Comp Biochem Physiol 34: 3–30.
Efron M (1969) High voltage paper electrophoresis. In: Smith I (ed) Chromatographic and electrophoretic techniques, vol 2: Zone electrophoresis. William Heinemann, Medical Books, London, p 158.
Fleischer LD, Rassin DK, Wisniewski K, Salwen HF (1980) Carnosinase deficiency: a new variant with high residual activity. Pediatr Res 14: 269–271.
Gjessing LR, Sjaastad O (1974) Homocarnosinosis, a new metabolic disorder associated with spasticity and mental retardation. Lancet ii: 1028.
Gordon EF, Coulombe JT, Sepe SJ, Levy HL (1977) A variant with carnosinemia with normal serum carnosinase activity in an infant. Pediatr Res 11: 456.
Haegele KD, Schwartz JJ, Schoun J, Schmitt AH, Schechter PJ (1987) 2 Pyrrolidinone in human cerebrospinal fluid: a major constituent of total-γ-aminobutyric acid. J Neu-rochem 49: 1402–1406.
Hartlage PL, Roesel RA, Eller AG, Hommes FA (1982) Serum carnosinase deficiency: decreased affinity of the enzyme for the substrate. J Inher Metab Dis 5: 13–14.
Kohen R, Yamamoto Y, Cundy KC, Ames BN (1988) Antioxidant activity of carnosine, homocarnosine, and anserine present in muscle and brain. Proc Natl Acad Sci 85: 3175–3179.
Leininger ML, Chapay P, Charvet J, Vovave L, Louchet E (1980) La carnosinémie. Premiére observation francaise. Pédiatrie 35: 341.
Lenney JF, Peppers SC, Kucera CM, Sjaastad O (1983) Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine. Clin Chim Acta 132: 157–165.
Lenney JF (1985) Carnosinase and homocarnosinosis. J Oslo City Hosp 35: 21–46.
Lenney JF (1988) unpublished data.
Levenson J, Lindahl-Kiessling K, Rayner S (1964) Carnosine excretion in juvenile amaurotic idiocy. Lancet ii: 756.
Lunde HA, Sjaastad O, Gjessing L (1982) Homocarnosinosis: hypercarnosinuria. J Neu-rochem 38: 242–245.
Lunde HA, Gjessing LR, Sjaastad O (1986) Homocarnosinosis: influence of dietary restriction of histidine. Neurochem Res 11 (6): 825–838.
Lunde HA, Lenney JF, Halvorsen S, Gjessing L (1987) Serum carnosinase in blood and homocarnosine in CSF of patients with Følling’s disease (PKU). J Oslo City Hosp 37: 29–33.
Margolis FL, Grillo M, Grannot-Reisfeld N, Farbman AI (1983) Purification, characterization and immunocytochemical localization of mouse kidney carnosinase. Biochim Biophys Acta 744: 237–248.
Murphy WH, Lindmark DG, Patchen L, Housler ME, Harrod EK, Mosovich L (1973) Serum carnosinase deficiency concomitant with mental retardation. Pediatr Res 7: 601–606.
Perry TL, Hansen S, Tischler B, Bunting R, Berry K (1967) Carnosinemia: a new metabolic disorder associated with neurological disease and mental defect. N Engl J Med 277: 1219–1227.
Perry TL, Hansen S, Lowe DL (1968) Serum carnosinase deficiency in carnosinemia. Lancet i: 1229.
Perry TL, Kish SJ, Sjaastad O, Gjessing LR, Nesbakken R, Schrader H, Løken AC (1979) Homocarnosinosis: increased content of homocarnosine and deficiency of homocar-nosinase in brain. J Neurochem 32: 1637–1640.
Perry TL, Hansen S, Wau RA, Gauthier SG (1982) Human CSF GABA concentrations, revised downward for controls but not decreased in Huntington’s chorea. J Neurochem 38: 766–773.
Pisano JJ, Wilson JD, Cohen L, Abraham D, Udenfriend S (1961) Isolation of γ amino-butyrylhistidine (homocarnosine) from brain. J Biol Chem 236: 499–502.
Rochel S, Margolis FL (1982) Carnosine release from olfactory bulb synaptosomes is calcium-dependent and depolarization stimulated. J Neurochem 38: 1505–1514.
Roesel RA, Hartlage P, Hall WK (1981) Carnosinuria and serum carnosinase deficiency in a child with congenital myopathy. Fed Proc 40: 86.
Scriver CR, Perry TL, Nutzenadel W (1983) Disorders of β-alanine, carnosine and homocarnosine metabolism. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 570–585.
Sjaastad O, Berstad J, Gjesdahl P, Gjessing L (1976) Homocarnosinosis 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency and retinal pigmentation. Acta Neurol Scand 52: 275–290.
Sjaastad O, Gjessing L, Berstad J, Gjesdahl P (1977) Homocarnosinosis 3. Spinal fluid amino acids in familial spastic paraplegia. Acta Neurol Scand 55: 158–162.
Smith I (1960) Aminoacids, amines and related compounds. In: Smith I (ed) Chromatographic and electrophoretic techniques, vol 1. Chromatography. W Heinemann Medical Books, London, p 82.
Terplan KL, Cares HL (1972) Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. Neurology 22: 644–655.
Undrum T, Gjessing LR (1982) unpublished data.
Undrum T, Lunde HA, Gjessing LR (1982) Determination of ophidine in human urine. J Chromatogr 227: 53–59.
van Heeswijk PJ, Trijbels JMF, Schretlen EDAM, van Munster PJJ, Monnens LAH (1969) A patient with a deficiency of serum-carnosinase activity. Acta Paediat Scand 58: 584–592.
van Sande M, Mardens Y, Adriaenssens K, Lowenthal A (1970) The free amino acids in human cerebrospinal fluid. J Neurochem 17: 125–136.
Westall RG (1955) Amino acids and other ampholytes of urine. Biochem J 60: 247–255.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1990 Springer-Verlag
About this chapter
Cite this chapter
Gjessing, L.R., Lunde, H.A., MØrkrid, L., Lenney, J.F., Sjaastad, O. (1990). Inborn errors of carnosine and homocarnosine metabolism. In: Youdim, M.B.H., Tipton, K.F. (eds) Neurotransmitter Actions and Interactions. Journal of Neural Transmission, vol 29. Springer, Vienna. https://doi.org/10.1007/978-3-7091-9050-0_10
Download citation
DOI: https://doi.org/10.1007/978-3-7091-9050-0_10
Publisher Name: Springer, Vienna
Print ISBN: 978-3-211-82142-8
Online ISBN: 978-3-7091-9050-0
eBook Packages: Springer Book Archive