genetiske sygdomme og tilstande - mad, ernring og stofskifte
metabolisme er summen af alle kemiske ndringer, der finder sted i en celle eller en organisme. disse ndringer producere energi og grundlggende ndvendige materialer til vigtige livsprocesser. Visse gener metabolisme har en strk genetisk komponent. ab variant se GM2-gangliosidose, AB variant acadm mangel se mellemlang kde acyl-coenzym A dehydrogenase mangel acadvl se meget langkdede acyl-coenzym A dehydrogenase mangel aktivator-deficient Tay-Sachs sygdom se GM2-gangliosidose, AB variant akut cerebral Gauchers sygdom se Gauchers sygdom, type 2 akut intermitterende porphyria acy2 mangel se Canavan sygdom acyl-CoA dehydrogenase meget lang kde mangel se meget langkdede acyl-coenzym A dehydrogenase mangel ADP se ALAD mangel porphyri AIP se akut intermitterende porphyria aku se alkaptonuria 5-ala-dehydratase-deficient porphyria se ALAD mangel porphyria Ala-D porphyria se ALAD mangel porphyria ala dehydratase porphyria se ALAD mangel porphyria ALAD mangel porphyria alcaptonuria se alkaptonuria alkaptonuria alkaptonuric ochronosis se alkaptonuria 2-alpha-methyl- 3-hydroxybutyricacidaemia se beta-ketothiolase-mangel 3-alfa-ketothiolase-mangel se beta-ketothiolase-mangel 3-alfa-KTD mangel se beta-ketothiolase-mangel 3-alfa-oxothiolase mangel se beta-ketothiolase-mangel a-galactosidase en mangel se Fabrys sygdom alpha -methylacetoacetic aciduri se beta-ketothiolase deficiens amino levulinsyre dehydratase mangel se ALAD mangel porphyria aminoacylase 2 mangel se Canavan sygdom 5-aminolaevulinic dehydratase mangel porphyria se ALAD mangel porphyria Anderson-Fabry sygdom se Fabry sygdom angiokeratoma corporis diffusum se Fabry sygdom angiokeratoma diffus se Fabry sygdom argininosuccinate lyase mangel se argininosuccinic aciduri argininosuccinic aciduri argininosuccinyl-CoA lyase mangel se argininosuccinic aciduri arginosuccinase mangel se argininosuccinic aciduri ASL mangel se argininosuccinic aciduri asp mangel se Canavan sygdom ASPA mangel se Canavan sygdom aspartoacylase mangel se Canavan sygdom b variant GM2 Gangliosidosis se Tay-Sachs sygdom bckd mangel se ahornsirup urin sygdom beta-hexosaminidase-beta-subunit mangel se Sandhoff sygdom beta-ketothiolase mangel BH4 mangel se tetrahydrobiopterin mangel biotinidase mangel bmcc mangel se 3-methylcrotonyl-CoA-carboxylase-mangel forgrenet a-ketosyre dehydrogenasemangel se ahornsirup urin sygdom forgrenede ketoaciduria se ahornsirup urin sygdom bronze diabetes se hmokromatose bronzed skrumpelever se hmokromatose burger-grutz syndrom se familir lipoproteinlipase mangel cact mangel se carnitin-acylcarnitin translocase mangel Canavan sygdom carboxylase mangel, flere sent debuterende se biotinidase mangel carnitin-acylcarnitin translocase mangel carnitinpalmitoyltransferase i mangel carnitinpalmitoyltransferase ii mangel carnitin transportren mangel se primre carnitinmangel carnitin optagelse defekt se primre carnitinmangel carnitin optagelse mangel se primre carnitinmangel CEP se medfdt erythropoietisk porphyria ceramid trihexosidase mangel se Fabry sygdom cerebroside lipidosis syndrom se Gauchers sygdom citrullinaemia citrullinuria se citrullinaemia klassiske galactosmi se galactosmi klassisk phenylketonuri se phenylketonuri medfdt erythropoietiske porfyri kobber storage disease se Wilson sygdom kobber transport sygdom, jf. Menkes syndrom coproporphyria, arvelig se arvelig coproporphyria coproporphyrinogen oxidase mangel se arvelig coproporphyria CPO mangel se arvelig coproporphyria cpro mangel se arvelig coproporphyria CPT mangel, lever-, skrive jeg se carnitinpalmitoyltransferase i mangel cpt i mangel se carnitinpalmitoyltransferase i mangel cpt2 - carnitinpalmitoyltransferase ii mangel se carnitinpalmitoyltransferase ii mangel cptii - carnitinpalmitoyltransferase mangel type II se carnitinpalmitoyltransferase ii mangel CPX mangel se arvelig coproporphyria drv se primre carnitinmangel cystin diatese se cystinose cystin sygdom, jf. cystinose cystin storage disease se cystinose cystinoses se cystinose cystinose d-glycerat dehydrogenase mangel se primr hyperoxaluria mangel sygdom, phenylalaninhydroxylase se phenylketonuri mangel p glucose-6-fosfat dehydrogenase se glucose-6-fosfat dehydrogenasemangel mangel af hydroxymethylglutaryl-CoA lyase se 3-hydroxy-3-methylglutaryl-CoA lyase mangel mangel methylcrotonoyl-CoA-carboxylase se 3-methylcrotonyl-CoA-carboxylase-mangel delta-aminolevulinat dehydratase mangel porphyria se ALAD mangel porphyria diffus globoid organ sklerose se Krabbe sygdom Doss porphyri se ALAD mangel porphyria tidlig indtrden biotin-responsive multiple carboxylase mangel se holocarboxylase synthetase mangel tidlig indtrden kombinerede carboxylase mangel se holocarboxylase syntetase mangel elektron transfer flavoprotein mangel se glutarsyre acidaemia type II ema se glutarsyre acidaemia type II PPE se erythropoietiske protoporphyria erythrohepatic protoporphyria se erythropoietisk protoporphyria erythropoietisk porphyria se medfdt erythropoietisk porphyria erythropoietisk protoporphyria erythropoietisk uroporphyria se medfdt erythropoietisk porphyria etfa mangel se glutarsyre acidaemia type II etfb mangel se glutarsyre acidaemia type II etfdh mangel se glutarsyre acidaemia type II ethylmalonsyre-adipicaciduria se glutarsyre acidaemia type II Fabrys sygdom familir hmokromatose se hmokromatose familir lipoproteinlipase mangel familir pct se porphyria cutanea tarda ferrochelatase mangel se erythropoietiske protoporphyria ferroportin sygdom, jf. hmokromatose, type 4 fisk ildelugt syndrom se trimethylaminuria fisk lugt syndrom se trimethylaminuria folling sygdom, jf. phenylketonuri G6PD mangel se glucose-6-fosfat dehydrogenase mangel g6pdd se glucose-6-fosfat dehydrogenase mangel ga jeg ser glutarsyre acidaemia type I- GA II se glutarsyre acidaemia type II galactokinase mangel sygdom, jf. galactosmi galactose-1-fosfat uridyl-transferase mangel sygdom, jf. galactosmi galactosmi galactosylceramidase mangel sygdom, jf. Krabbe sygdom galactosylceramid lipidosis se Krabbe sygdom galactosylcerebrosidase mangel se krabbe sygdom galactosylsphingosine lipidosis se krabbe sygdom GalC mangel se krabbe sygdom Galt mangel se galactosmi Gauchers sygdom gd se Gauchers sygdom genetisk hmochromatose se hmochromatose kmpecelle hepatitis, neonatal se hmokromatose, neonatal GLA mangel se Fabry sygdom globoid celle leukodystrofi (GCL, GLD) se Krabbe sygdom globoid celle leukoencefalopati se Krabbe sygdom glucocerebrosidase mangel se Gauchers sygdom glucocerebrosidosis se Gauchers sygdom glucose-6-fosfat dehydrogenase mangel glucosylgruppe cerebroside lipidosis se Gauchers sygdom glucosylceramidase mangel se Gauchers sygdom glucosylceramidsyntase beta-glukosidase-mangel se Gauchers sygdom glucosylceramidsyntase lipidosis se Gauchers sygdom glutarsyre acidaemia type I glutarsyre acidaemia type II glutaryl-CoA dehydrogenase mangel se glutarsyre acidaemia type I glycerolsyre aciduri se primr hyperoxaluria glykolsyre aciduri se primr hyperoxaluria GM2 aktivator mangel sygdom, jf. GM2-gangliosidose, ab variant GM2-gangliosidose, ab variant GM2 Gangliosidosis, type 1 Se Tay-Sachs sygdom GM2 Gangliosidosis, type 2 se Sandhoff sygdom GM2 Gangliosidosis, type II se Sandhoff sygdom Guenther porfyri se medfdt erythropoietiske porfyri Gunther sygdom, jf. medfdt erythropoietiske porfyri hmokromatose se hmokromatose hcp se arvelig coproporphyria hef2a See hmokromatose, type 2 hef2b se hmokromatose , type 2 hematoporphyria se porfyri hm syntetase deficiency se erytropoietiske protoporphyria haemochromatoses se hmokromatose hmokromatose hep se hepatoerythropoietic porfyri nedsat AGT mangel se primr hyperoxaluria hepatoerythropoietic porfyri hepatolentikulr degeneration syndrom se Wilson sygdom arvelig coproporphyria arvelig dystopiske lipidosis se Fabry sygdom arvelig hmokromatose (HHC) se hmokromatose arvelig tyrosinaemias se tyrosinaemia hexa-mangel se Tay-Sachs sygdom hexosaminidase A og B mangel sygdom se Sandhoff sygdom hexosaminidase en mangel se Tay-Sachs sygdom hexosaminidase aktivator mangel se GM2-gangliosidose, AB variant hexosaminidase alfa-subunit-mangel (variant b), se Tay-Sachs sygdom HFE-associeret hmochromatose se hmochromatose hgps se Hutchinson-Gilford progeria syndrom hlah se hmochromatose hlcs mangel se holocarboxylase synthetase mangel HMG-CoA-lyase mangel se 3-hydroxy-3-methylglutaryl-CoA lyase mangel holocarboxylase syntetase mangel homocystinuri homogentisic syre-oxidase mangel se alkaptonuria homogentisic acidura se alkaptonuria homozygot porphyria cutanea tarda se hepatoerythropoietic porphyria HP1 se primre hyperoxaluri HP2 se primre hyperoxaluri Hutchinson-Gilford progeria syndrom 3-hydroxy-3-methylglutaryl-CoA lyase mangel 3-hydroxyacyl-CoA dehydrogenase, langkdede, mangel se langkdede 3-hydroxyacyl-coenzym A dehydrogenase mangel hydroxymethylbilane synthase mangel se akut intermitterende porphyria hydroxymethylglutaric aciduri se 3-hydroxy-3-methylglutaryl-CoA lyase mangel hyperchylomicronemia, familir se familir lipoproteinlipase mangel hyperglycinemia med ketoacidose og leukopeni se propionsyre acidaemia hyperlipoproteinmi type I se familir lipoprotein lipase mangel hyperoxaluri, primr se primr hyperoxaluria hyperphenylalaninmi forrsaget af en defekt i biopterin stofskifte se tetrahydrobiopterin mangel hyperphenylalaninmi, ikke-Fllings se tetrahydrobiopterin mangel hypertyrosinaemia se tyrosinaemia hypocupremia, medfdt se Menkes syndrom idiopatisk hmokromatose See hmokromatose, type 3 idiopatisk neonatal hmokromatose See hmokromatose, neonatal infantil cerebral Gauchers sygdom, jf. Gauchers sygdom, type 2 infantil Gauchers sygdom, jf. Gauchers sygdom, type 2 infantil flere carboxylase mangel se holocarboxylase syntetase deficiency intermitterende akut porfyri syndrom se akut intermitterende porfyri jern opbevaring lidelse se hmokromatose isovaleriane acidaemia isovaleryl-CoA dehydrogenase mangel se isovaleriane acidaemia IVD mangel se isovaleriane acidaemia JH See hmokromatose, type 2 kerasin histiocytose se Gauchers sygdom kerasin lipoidosis se Gauchers sygdom kerasin thesaurismosis se Gauchers sygdom ketoacidaemia se ahornsirup urin sygdom 3-ketothiolase mangel se beta-ketothiolase mangel ketotisk glycinemia se propionsyre acidaemia ketotisk hyperglycinemia se propionsyre acidaemia kinky hr syndrom se Menkes syndrom Krabbe sygdom sent debuterende Krabbe sygdom (lokd) se Krabbe sygdom lchad mangel se lang kde 3-hydroxyacyl-coenzym A dehydrogenase mangel leukodystrophy, spongiform se Canavan sygdom lipase d mangel se familir lipoproteinlipase mangel lipd mangel se familir lipoproteinlipase mangel lipoid histiocytose (kerasin type) se Gauchers sygdom lipoproteinlipase deficiens, familir se familir lipoproteinlipase mangel leveren form af carnitinpalmitoyltransferase mangel se carnitinpalmitoyltransferase i mangel langkdet 3-hydroxyacyl-coenzym A dehydrogenase mangel gal - multiple acyl-CoA dehydrogenase mangel se glutarsyre acidaemia type II MADD se glutarsyre acidaemia type II malonsyre aciduri se malonyl-CoA decarboxylase mangel malonyl-CoA decarboxylase mangel ahornsirup urin sygdom mtten mangel se beta-ketothiolase mangel MCAD mangel se mellemlang kde acyl-coenzym A dehydrogenasemangel mcadd se mellemlang kde acyl-coenzym A dehydrogenase mangel mcadh mangel se mellemlang kde acyl-coenzym A dehydrogenase mangel 3-MCC se 3-methylcrotonyl-CoA-carboxylase mangel MCC mangel se 3-methylcrotonyl-CoA-carboxylase mangel mcd mangel se malonyl -CoA decarboxylase mangel mellemlang kde acyl-coenzym A dehydrogenase mangel menkea syndrom se Menkes syndrom Menkes syndrom 3-methylcrotonyl-CoA-carboxylase-mangel methylcrotonyl-CoA-carboxylase-mangel se 3-methylcrotonyl-CoA-carboxylase-mangel 3-methylcrotonylglycinuria se 3-methylcrotonyl-CoA-carboxylase mangel 3-methylhydroxybutyric acidaemia se beta-ketothiolase mangel methylmalonic acidaemia mitokondrie-2-methylacetoacetyl-CoA thiolaseekspression mangel - kalium stimuleret se beta-ketothiolase mangel mitokondrie-acetoacetyl-CoA thiolaseekspression mangel se beta-ketothiolase mangel mitokondrie trifunktionel proteinmangel mk - Menkes syndrom se Menkes syndrom MMA se methylmalonic acidaemia mnk - Menkes syndrom se Menkes syndrom MSUD se ahornsirup urin sygdom MTP mangel se mitokondrie trifunktionel proteinmangel flere carboxylase mangel, sent debuterende se biotinidase mangel flere carboxylase mangel, neonatal form, se holocarboxylase syntetase mangel muskel form af carnitinpalmitoyltransferase mangel se carnitinpalmitoyltransferase ii mangel ikke-neuroneopathic Gauchers sygdom, jf. Gauchers sygdom, type 1 ikke-Fllings hyperphenylalaninmi se tetrahydrobiopterin mangel norrbottnian Gauchers sygdom, jf. Gauchers sygdom, type 3 ochronosis se alkaptonuria ochronotic gigt se alkaptonuria 3-OH 3-CH3 glutarsyre aciduri se 3 - hydroxy-3-methylglutaryl-CoA lyase mangel oxalose se primr hyperoxaluria oxaluria, primr se primr hyperoxaluria pbgd mangel se akut intermitterende porfyri PCC mangel se propionsyre acidaemia pct se porphyria cutanea tarda peroxisomale alanin: glyoxylat aminotransferase mangel se primr hyperoxaluria phenylalaninhydroxylase mangel sygdom, jf. phenylketonuri phenylketonuri pigmentdannende skrumpelever se hmokromatose PKU se phenylketonuri plumboporphyria se ALAD mangel porfyri porfobilinogen deaminase mangel se akut intermitterende porfyri porfobilinogen syntase mangel se ALAD mangel porfyri porphyria porfyrin lidelse se porfyri ppox mangel se broget porfyri Prader-labhart-Willi syndrom se Prader-Willi syndrom Prader- Willi syndrom primre carnitinmangel primr hmokromatose se hmokromatose primr hyperoxaluria progeria se Hutchinson-Gilford progeria syndrom propionsyre acidaemia propionyl-CoA carboxylase mangel se propionsyre acidaemia protoporphyria se erythropoietiske protoporphyria protoporphyrinogen oxidase mangel se broget porfyri pseudo-Gauchers sygdom, jf. Gauchers-lignende sygdom psychosin lipidosis se Krabbe sygdom PWS se Prader-Willi syndrom pyrroloporphyria se akut intermitterende porfyri renal carnitin transport defekt se primre carnitinmangel Sandhoff sygdom sydafrikanske genetisk porfyri se broget porfyri sphingolipidosis, Tay-Sachs se Tay-Sachs sygdom svampet degeneration af det centrale nervesystem se Canavan sygdom svampet degeneration af hjernen se Canavan sygdom svampet degeneration af hvid substans i barndom se Canavan sygdom gammel fisk syndrom se trimethylaminuria stlsat hr syndrom se Menkes syndrom svenske genetiske porfyri se akut intermitterende porfyri svenske porphyria se akut intermitterende porfyri systemisk carnitinmangel se primre carnitinmangel t2 mangel se beta-ketothiolase-mangel Tay-Sachs sygdom Tay-Sachs sygdom, AB variant se GM2-gangliosidose, AB variant tetrahydrobiopterin mangel TFP mangel se mitochondrial trifunktionelle proteinmangel tmau se trimethylaminuria samlede hexosaminidase mangel se Sandhoff sygdom TPA mangel se mitochondrial trifunktionelle proteinmangel trifunktionel protein mangel, type 1 se langkdet 3-hydroxyacyl-coenzym A dehydrogenase mangel trifunktionel proteinmangel, type 2 se mitochondrial trifunktionelle proteinmangel trimethylaminuria troisier-hanot-chauffard syndrom se hmochromatose tsd se Tay-Sachs sygdom type 2 Gauchers sygdom se Gauchers sygdom, type 2 type 3 Gauchers sygdom, jf. Gauchers sygdom, type 3 tyrosinaemia UDP-galactose-4-epimerase mangel sygdom, jf. galactosmi udpglucose 4-epimerase mangel sygdom, jf. galactosmi udpglucose hexose-1-fosfat uridylyltransferase mangel se galactosmi ups mangel se akut intermitterende porfyri urod mangel se porphyria cutanea tarda uroporphyrinogen decarboxylase mangel se porphyria cutanea tarda uroporphyrinogen syntase mangel se akut intermitterende porfyri Uros mangel se medfdt erythropoietiske porfyri UTP hexose-1-fosfat uridylyltransferase mangel se galactosmi van Bogaert-Bertrand syndrom se Canavan sygdom broget porfyri meget langkdede acyl- coenzym A dehydrogenasemangel vlcad-c se meget langkdede acyl-coenzym A dehydrogenase mangel vlcad mangel se meget langkdede acyl-coenzym A dehydrogenase mangel vlcad-h se meget langkdede acyl-coenzym A dehydrogenase mangel von Bogaert-Bertrand sygdom se Canavan sygdom von recklenhausen-Applebaum sygdom, jf. hmokromatose vp se broget porfyri WD - Wilsons sygdom se Wilson sygdom Wilson sygdom x-linked kobbermangel se Menkes syndromRelaterede Sundhed Artikler