Oversigt over Metabolisk Laboratoriums analyser

​A

Adenin fosforibosyltransferase (APRT)
Adenosin deaminase
Adrenoleukodystrofi
Alkaptonuri
Aminosyrer
Argininosuccinat syntetase
Arylsulfatase A (Metakromatisk leukodystrofi)
Arylsulfatase B (Maroteaux-Lamy syndrom)

B

ß-methylkrotonyl-CoA karboxylase defekt
b -Oxidationsdefekter
Biotinidase

C

CDG (Glykosyleringsdefekter)
Chondrodystrofia punctata
Citrullinæmi
CPT II
Cystin
Cystin inkorporering 
Cystinose
Cystinuri

D

Dyhydropyrimidin dehydrogenasedefekt
Dihydroxyacetonefosfat acyltransferase (DHAPAT)

F

a -Fukosidase (Fukosidose)
Fabry sygdom
Fumarase defekt
Fede syrer, langkædede (Peroxisomale defekter)
Fukosidose
Fytansyre (Peroxisomale defekter)
Fytansyre oxidase

G

Galaktocerebrosidase (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

H

Hartnup sygdom
Heparan-N-sulfatase (Sanfilippo A syndrom)
Hexosaminidase A (Tay-Sachs sygdom)
Holokarboxylase syntetase defekt
Hexosaminidase A + B (Sandhoff sygdom og Mukolipidose)
Homocystinuri
Hunter syndrom
Hurler syndrom
Hypoxanthin-fosforibosyl transferase (HPRT) (Lesch-Nyhan syndrom)

I

I-cell disease
a -Iduronidase (Hurler syndrom)

K

Karnitin
Karnitin palmitoyl transferase II

Kanavan sygdom
Kollagen
Krabbe sygdom
Kulhydrater

L

Langkædede fede syrer (Peroxisomale defekter)
Lesch-Nyhan syndrom
Lysinurisk proteinintolerence
Lysosomale enzymer, grp. I
Lysosomale enzymer
L-2-hydroxyglutarsyre

M

a -Mannosidase (Mannosidose)
b -Mannosidase (Mannosidose)
Mannosidose
MapleSyrupUrin Disease (MSUD)
Maroteaux-Lamy syndrom
MCAD
Metakromatisk leukodystrofi
Methylentetrahydrofolat reduktase
​Methylmalonsyreuri​ 
b-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

N

N-acetyl-a -D-glucosaminidase (Sanfilippo B)
N-acetylgalaktosaminidase (NAGA) (Schindler sygdom)
Neuraminidase
Niemann-Pick
Nonketotisk hyperglycinæmi

O

Oligosakkarider
Osteogenesis imperfecta
Organiske syrer
Ornitin trancarbamylase
Oxalose
Oxalsyre

P

Palmitinsyre oxidation
Peroxisomale defekter
Pompe sygdom
Prolidase defekt
Propionsyreæmi
Propionyl-CoA karboxylase
Pseudo-Hurler syndrom
Purin nukleosid fosforylase
Puriner og pyrimidiner
Pyruvat karboxylase defekt
Pyruvatdehydrogenasemangel

R

Respirationskæde-defekter

S

Sandhoff sygdom
Sanfilippo A+B syndrom
Schindler sygdom
Sialidose
Sly syndrom
Smith-Lemli-Opitz syndrom
Sphingomyelinase
Suc​cinat semialdehyd dehydrogenase defekt
Sulfitoxidase defekt
Sure mukopolysakkarider (Hunter, Hurler, Sanfilippo, Morquio, Sly)

T

Tay-Sachs sygdom
Transferrin-mønster i serum
Tyrosin type 1
Tyrosin type 2
Tyrosin type 3

Urinstofcyklus defekter
Urinscreening

Z

Zellweger​
 

X

Xanthurensyreur​i


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