Visit Metagene.de!
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 consistent clinical signs or symptoms
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
seizures
laboratory finding
Carnosine500.001000.000.0020.00+Ôé¼mol/g creatinineurinechild
Carnosine increasedserum
Carnosinase 100.00decreased activityserum
Homocarnosine 4.008.70increasedcerebrospinal fluid
Anserine urine
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