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Summary
CARNOSINURIA, CARNOSINEMIA
CARNOSINASE DEFICIENCY
212200
OMIM = Online Medalian Inheritance of Men
1361
18q21.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
rare (30 cases)
autosomal recessive
symptoms
Amino acids, plasma
Amino acids, urine
hearing defect, deafness
mental retardation
no clinical signs or symptoms
seizures
laboratory finding
Carnosine500.001000.000.0020.00+Ôé¼mol/g creatinineurinechild
Carnosine increasedserum
Carnosinase 100.00decreased activityserum
Homocarnosine 4.008.70increasedcerebrospinal fluid
Literature
Sampson Bet al.Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolismLancet36001742-17452002
Sampson Bet al.Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolismLancet36001742-17452002
Trefz FKSchneider HC, Frauendienst-Egger G, Wermuth B, Korall HMinor neurological findings as primary symptoms in a case of ornithine transcarbamylase (OTC) deficiencyMonatschr Kinderheilk1450238-2411997
Sidden CRet al.A case of chondrodysplasia punctata with features of osteogenesis imperfecta type IIJ Ultrasound Med206699-7032001
Mitchell GAet al.HypertyrosinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101077-11061995
Striz ITrebichavsky ICalprotectin - a pleiotropic molecule in acute and chronic inflammationPhysiol Res533245-2532004
Nwokoro NAWassif CA, Porter FDGenetic disorders of cholesterol biosynthesis in mice and humansMol Genet Metab741105-1192001
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994