AAdenin fosforibosyltransferase (APRT) Adenosin deaminaseAdrenoleukodystrofiAlkaptonuriAminosyrer Argininosuccinat syntetase Arylsulfatase A (Metakromatisk leukodystrofi)Arylsulfatase B (Maroteaux-Lamy syndrom)
Bß-methylkrotonyl-CoA karboxylase defektb -Oxidationsdefekter Biotinidase
CCDG (Glykosyleringsdefekter)Chondrodystrofia punctata Citrullinæmi CPT II Cystin Cystin inkorporering CystinoseCystinuri
DDyhydropyrimidin dehydrogenasedefekt Dihydroxyacetonefosfat acyltransferase (DHAPAT)
Fa -Fukosidase (Fukosidose) Fabry sygdom Fumarase defektFede syrer, langkædede (Peroxisomale defekter) Fukosidose Fytansyre (Peroxisomale defekter) Fytansyre oxidase
GGalaktocerebrosidase (Krabbe sygdom) Galaktose-1-fosfat (Gal-1-P) Galaktose-1-fosfat uridyltransferase a -Galaktosidase (Fabry sygdom) b -Galaktosidase (GM1-gangliosidose og Morquio B syndrom) Galaktosæmi Galaktose-6-sulfatsulfatase Gaucher sygdom Globoid celle leukodystrofi (Krabbe sygdom) Glukogenose type II (Pompe sygdom) b -Glukuronidase a -Glukosidase (Pompe sygdom) b -Glukosidase (Gaucher syndrom) Glutaryl-CoA dehydrogenase Glutarsyreuri type I (GA-I) Glutarsyreuri type II (GA-II) Glycerol Glycerolkinase
HHartnup sygdomHeparan-N-sulfatase (Sanfilippo A syndrom) Hexosaminidase A (Tay-Sachs sygdom) Holokarboxylase syntetase defektHexosaminidase A + B (Sandhoff sygdom og Mukolipidose) Homocystinuri Hunter syndrom Hurler syndrom Hypoxanthin-fosforibosyl transferase (HPRT) (Lesch-Nyhan syndrom)
II-cell disease a -Iduronidase (Hurler syndrom)
KKarnitin Karnitin palmitoyl transferase II
Kanavan sygdomKollagen Krabbe sygdom Kulhydrater
LLangkædede fede syrer (Peroxisomale defekter) Lesch-Nyhan syndrom Lysinurisk proteinintolerenceLysosomale enzymer, grp. I Lysosomale enzymerL-2-hydroxyglutarsyre
Ma -Mannosidase (Mannosidose) b -Mannosidase (Mannosidose) Mannosidose MapleSyrupUrin Disease (MSUD) Maroteaux-Lamy syndrom MCADMetakromatisk leukodystrofi Methylentetrahydrofolat reduktaseMethylmalonsyreurib-Methylkrotonyl-CoA karboxylase Mitokondrie sygdomme Molybdænkofaktor defekt, type A Molybdænkofaktor defekt, type B Molybdænkofaktor defekt, type A + B Morquio A syndrom Morquio B syndrom Mukolipidose Mukopolysakkaridose Multipel karboxylase defekt Multipel sulfatase defekt Myristinsyre oxidation
NN-acetyl-a -D-glucosaminidase (Sanfilippo B) N-acetylgalaktosaminidase (NAGA) (Schindler sygdom) Neuraminidase Niemann-PickNonketotisk hyperglycinæmi
OOligosakkarider Ostogenesis imperfecta Organiske syrer Ornitin trancarbamylaseOxaloseOxalsyre
PPalmitinsyre oxidation Peroxisomale defekter Pompe sygdom Prolidase defektPropionsyreæmi Propionyl-CoA karboxylase Pseudo-Hurler syndrom Purin nukleosid fosforylasePuriner og pyrimidiner Pyruvat karboxylase defektPyruvatdehydrogenasemangel
RRespirationskæde-defekter
SSandhoff sygdom Sanfilippo A+B syndromSchindler sygdom Sialidose Sly syndromSmith-Lemli-Opitz syndromSphingomyelinase Succinat semialdehyd dehydrogenase defekt Sulfitoxidase defektSure mukopolysakkarider (Hunter, Hurler, Sanfilippo, Morquio, Sly)
TTay-Sachs sygdom Transferrin-mønster i serumTyrosin type 1Tyrosin type 2Tyrosin type 3
U Urinstofcyklus defekterUrinscreening
ZZellweger XXanthurensyreuri