Ity oTMedicine Masaryk University 1 Cu+, Cu2+ 80 -100 mg in organism, ~)D'JA in bod lEsnp • reference values Cu/S = 820 -1400 |ig/l males 11 - 22 |imol/l fema Afroamericans 8 -12% | 12.5-2 4 \xniu. • 90-95% in ceruloplc • ceruloplasmin /S = 240 - 400 mg/l Absorption Transport and organism Excretion Transport and distribuiton in organism nsp C u bjj-jds íl umí His or transcuprein in liver 90% binds to newly synthetized ceruloDlasmin PJ3J£ in b \düc\ i 0-93% in cerul rjrjl^i^iillr rit Pari ví en-zynizs: Cyt C-OXÍdase, SOD, MAO, tyrosinase, dopamine-ß-hydroxylase, lysyloxidase igments, for example kerati Necessary for catecholamines metabolism, production of connective tissue , CNS and eres lilfflimi Antioxidative function 7 on reaction )H- + OH + Cu2 rjfMoxkkľ ive ac 10 Menkes disease (Kinky (steely) - hair disease) GR heredity b;j9 iíiUíiúíon oHrsi/Jspc intestinal abs pairment jCu, ceruloplasmin and Cu-enzymes most of children die within 3 vears ' growth and skeletal defects, mental and physical retardation, brain and typical hai t Cu in hepatitis, acute leukemias, lymfoms, MM, melanoma, schizophrenic Acute intoxication >250 mg Cu, nausea, iarrhoea, epigastrium pain; si coma and acute heoatal and renal failure iüüÄj Chronic intoxication Mi'i. mil iwHiTS ľv/sTM^T ?+T7sTS 11 r i •iíííeí^ / ^'■'■ ^ =),. Wilson's dise AR heredity gene mutation of transport IC t Cu absorptin, Cu bile elimination disorder, Cu-ceruroplasmin bound defect, | or none c9ľLJJu«lRwjT]jjj syrnjugjg manifests usually between 10th - ye» Otal Cu IS (6.3 - 9.4 |amol/l), I ceruloplasmin IS ( 1.57 ^imol/d = > 400 ng/d) f UľJ/JB s Wilson's dise ee co pp3ľ attacks: liver: icterus, anorexia, nausea, weight loss, haemorrhagic diathessis, cirrh basal ganglion dysfunction —> rigidit ystonia .., 3p33Zh ď&uľdz AiünBys: urine excretion cornea: brown-greeen Keyser-Fleischner Wilson's dise ATP7B gene molecular PCR analysis - detection nlElEniľilkitfcMiJ Examination of r sisters) is necessary (Cu/S, cerulop rothers a erapy: D-penicilamine (1 -2g/d) (25 - 50 mg 3x per day between meals) Vit. Bg (penicilamine is it's antimetabolite