Stoornissen in de koolhydraatstofwisseling

 

 

 

Stoornissen in de fructose stofwisseling:
 

  1. Fructosurie ( Essential Fructosuria - hepatic fructokinase deficiency )

    Synoniemen: Hepatische fructokinase deficiŽntie; Ketohexokinase deficiŽntie.

    OMIM: 229800


    OMIM: Clinical Synopsis

    ExPASy: Ketohexokinase; EC 2.7.1.3

    Enzym synoniemen: Ketohexokinase

    ATP + D-fructose <=> ADP + D-fructose 1-phosphate

     
  2. Hereditaire fructose intolerantie ( Fructosemie )

    Synoniemen: Fructosemia;   fructose-1-phosphate aldolase deficiency; Fructose-1,6-biphosphate aldolase  deficiency; Aldolase B deficiency

    OMIM: 229600


    OMIM: Clinical Synopsis

    e-Medicine: Fructose 1-Phosphate Aldolase Deficiency    (Fructose Intolerance)

    ExPASy: Fructose-bisphosphate aldolase; EC 4.1.2.13

    Enzym synoniemen: Aldolase;  Fructose-1,6-bisphosphate triosephosphate-lyase

    D-fructose 1,6-bisphosphate <=> glycerone phosphate +  D-glyceraldehyde 3-phosphate

    Zie ook de gluconeogenese en de glycolyse

     
  3. Hereditaire fructose 1,6-bisphosphatase DeficiŽntie

    Synoniemen:  Fructose 1,6-diphosphatase deficiency;  FBP-ase deficiency;  FDP-ase deficiency

    OMIM: 229700


    OMIM: Clinical Synopsis 

    e-Medicine:
    Fructose 1,6-Diphosphatase Deficiency

    ExPASy: Fructose-bisphosphatase; EC 3.1.3.11

    Enzym synoniemen: Fructose-1,6-bisphosphatase;  Hexosediphosphatase

    D-fructose 1,6-biphosphate + H2O <= > D-fructose 6-phosphate + Phosphate

    Zie ook de gluconeogenese

     
  4. D-glycerate kinase deficiŽntie

    Synoniemen: D-Glycericacidemia

    OMIM: 220120


    OMIM: Clinical Synopsis

    ExPASy: Glycerate kinase; EC 2.7.1.31

    ATP + glycerate <= > ADP + phosphoglycerate 

     
  5. Aldolase A Deficiency

    Synoniemen: erythrocyte Aldolase Deficiency with nonspherocytic hemolytic anemia

    OMIM: 103850


    OMIM: Clinical Synopsis

    ExPASy:  Fructose-bisphosphate aldolase; EC 4.1.2.13

    Enzym synoniemen: Aldolase.  Fructose-1,6-bisphosphate triosephosphate-lyase

    Zie ook de gluconeogenese en de glycolyse


     
  6. Incomplete Fructose Absorption

     


Glycogeen stapelingsziekten
( GSD : glycogen storage diseases):

 

  1. Ziekte van Gierke  ( Glycogen Storage Disease Ia )

    Synoniemen:  Glucose-6-fosfatase deficiŽntie;    GSD Ia

    OMIM: 232200


    OMIM: Clinical Synopsis

    Who Named It?:  Edgar Otto Conrad von Gierke

    e-Medicine:  Glycogen Storage Disease Type I

    ExPASy: Glucose-6-phosphatase;  EC 3.1.3.9

    D-glucose 6-phosphate + H2O <=> D-glucose + phosphate

    Zie ook de gluconeogenese en de glycogenolyse

     
  2. Glycogen Storage Disease Ib

    Synoniemen: glucose-6-phosphate transport defect; GSD1b

    OMIM: 232220


    OMIM: Clinical Synopsis

    e-Medicine: Glycogen Storage Disease Type I

     
  3. Glycogen Storage Disease  Ic 

    OMIM: 232240

    OMIM: Clinical Synopsis

    e-Medicine: Glycogen Storage Disease Type I

     
  4. Glycogen Storage Disease Id

    OMIM: 232240

    OMIM: Clinical Synopsis

    e-Medicine: Glycogen Storage Disease Type I

     
  5. Ziekte van Pompe  ( Glycogen Storage Disease II )

    Synoniemen:  GSD II;   
    Ideopatische gegeneraliseerde glycogenose; alpha-1,4-glucosidase deficiency ; Acid malatase deficiency

    OMIM: 232300


    OMIM: Clinical Synopsis

    e-Medicine:  Glycogen Storage Disease Type II

    Pompe Center: Erasmus MC

    ExPASy: Alpha-glucosidase;  EC 3.2.1.20

    Enzym synoniemen: Maltase; Glucoinvertase; Glucosidosucrase; Maltase-glucoamylase; Acid maltase; Lysosomal alpha-glucosidase

    Hydrolysis of terminal, non-reducing 1,4-linked D-glucose residues with release of D-glucose

     
  6. Ziekte van Danon ( Glycogen Storage Disease IIb )

    Synoniemen:    X-linked vacuolar cardiomyopathy and myopathy; Glycogen cardiomyopathy; Pseudoglycogenosis II

    OMIM: 300257


     
  7. Ziekte van Forbes  /  Ziekte van Cori     ( Glycogen Storage Disease III  )

    Synoniemen:  GSD III;   Amylo-1,6-glucosidase deficiŽntie limit dextrinosis;  Glycogen debrancher deficiency; Glycogen debranching deficiency

    OMIM: 232400


    OMIM: Clinical Synopsis

    Who Named It?:  Gilbert Burnett Forbes ; Gerty Theresa Radnitz Cori

    ExPASy:  Amylo-alpha-1,6-glucosidase; EC 3.2.1.33

    Enzym synoniemen: Amylo-1,6-glucosidase; Dextrin 6-alpha-D-glucosidase

    amylo-1,6-glucosidase katalyseert de endohydrolyse van 1,6-a-D--glucoside bindingen in amylopectine

     
  8. GSD IIIa  ( lever en spieren )

     
  9. GSD IIIb  ( Alleen lever )

     
  10. GSD IIIc  ( AGL glucosidase  )

     
  11. GSD IIId  ( AGL transferase )

     
  12. Ziekte van Andersen. ( Glycogen Storage Disease IV )

    Synoniemen:   glycogen-branching enzyme deficiency;    amylopectinosis;  brancher deficiency

    OMIM: 232500

    OMIM: Clinical Synopsis

    e-Medicine: Glycogen Storage Disease; type IV

    Extra informatie:  klik HIER

    Who named it?: Dorothy Hansine Andersen

    ExPASy: EC 2.4.1.18

    Enzym synoniemen: Glycogen branching enzyme; Amylo-(1,4 to 1,6)transglucosidase; Branching enzyme; Amylo-(1,4-1,6)-transglycosylase

    Reactie: vorming van  1,6-glucoside bindingen van glycogeen.

    Zie ook de glycogenese

     
  13. Ziekte van McArdle ( Glycogen Storage Disease V ) spieren gerelateerd

    Synoniemen: muscle glycogen phosphorylase deficiency;  phosphorylase deficiency; Myofosforylase deficiency

    OMIM: 232600

    OMIM: Clinical Synopsis

    Who named It?:   Brian McArdle

    e-Medicine: Glycogen Storage Disease Type V

    ExPASy: Phosphorylase;  EC 2.4.1.1

    Enzym synoniemen: Muscle phosphorylase A and B; Amylophosphorylase; Polyphosphorylase

    {(1,4)-alpha-D-glucosyl}(N) + phosphate <=> {(1,4)-alpha-D-glucosyl}(N-1) + alpha-D-glucose 1-phosphate

    Zie ook de glycogenolyse

     
  14. Ziekte van Hers ( Glycogen Storage Disease VI )    lever gerelateerd

    Synoniemen: Lever fosforylase deficientie

    OMIM: 232700


    OMIM: Clinical Synopsis

    Who Named It?:  Henry Gťry Hers

    e-Medicine: Glycogen Storage Disease Type VI

    ExPASy: Phosphorylase. EC 2.4.1.1

    Enzym synoniemen: Muscle phosphorylase A and B; Amylophosphorylase; Polyphosphorylase

    {(1,4)-alpha-D-glucosyl}(N) + phosphate <=> {(1,4)-alpha-D-glucosyl}(N-1) + alpha-D-glucose 1-phosphate

     
  15. Ziekte van Tarui   ( Glycogen Storage Disease VII )

    Synoniemen:  PFKM deficiency;  Muscle phosphofructokinase deficiency; Glycogen disease of muscle

    OMIM: 232800


    OMIM: Clinical Synopsis

    Who Named It?: Seiichiro Tarui

    e-Medicine: Glycogen Storage Disease Type VII

    ExPASy: 6-phosphofructokinase  EC 2.7.1.11

    Enzym synoniemen: Phosphohexokinase; Phosphofructokinase I

    ATP +  D-fructose 6-phosphate <=> ADP + D-fructose 1,6-biphosphate

    Zie ook de glycolyse

     
  16. Glycogen Storage Disease VIII

    Synoniemen:  X-linked liver glycogenosis type I;   Hepatic phosphorylase kinase deficiency;  PHK; Phosphorylase kinase deficiency of liver;  PYK;  PYKL

    OMIM:  306000


    OMIM: Clinical Synopsis

    ExPASy: Phosphorylase kinase  EC 2.7.1.38

    Enzym synoniemen: Dephosphophosphorylase kinase

    4 ATP + 2 phosphorylase B <=> 4 ADP + phosphorylase A

     
  17. Glycogen Storage Disease IXc

    OMIM:  604549

     
  18. Glycogen Storage Disease 0

    Synoniemen:  GSD 0;  Hypoglycemia with deficiency of glycogen synthetase in the liver; Liver glycogen synthase deficiency

    OMIM: 240600


    OMIM: Clinical Synopsis

    e-Medicine: Glycogen Storage Disease Type 0

    ExPASy: Glycogen (starch) synthase EC 2.4.1.11

    Enzym synoniemen: UDP-glucose-glycogen glucosyltransferase

    UDP-glucose + ( alpha-1,4-glucosyl)n <=> UDP + ( alpha 1,4-glucosyl)n+1

    Zie ook de glycogenese

     
  19. Fanconi-Bickel Syndrome     ( Glycogen Storage Disease XI  )

    Synoniemen:  Pseudo Phlorizin Diabetes;  Hepatic glycogenosis with aminoaciduria and glucosuria; Hepatic glycogenosis with Fanconi nephropathy

    OMIM:  227810


    OMIM: Clinical Synopsis

    Who Named It?:  Guido Fanconi H. Bickel

     
  20. Glucose-6-phosphate isomerase deficiency

    Synoniemen: Phosphohexose  isomerase deficiency; Phosphoglucose isomerase deficiency; Glucosephosphate isomerase deficiency

    OMIM: 172400


    OMIM: Clinical Synopsis

    ExPASy : Glucose-6-phosphate isomerase EC 5.3.1.9

    Enzym synoniemen: Phosphoglucose isomerase,  Phosphohexose isomerase, Phosphohexomutase, Oxoisomerase,  Hexosephosphate isomerase,  Hexose monophosphate isomerase, Phosphosaccharomutase,  Phosphoglucoisomerase,  Phosphohexoisomerase

    D-glucose 6-phosphate <=> D-fructose 6-phosphate

    Zie ook de gluconeogenese en de glycolyse

     
  21. Phosphoglycerate kinase deficiŽntie

    OMIM: 311800

    OMIM: Clinical Synopsis

    ExPASy: Phosphoglycerate kinase EC 2.7.2.3

    ATP + 3-phospho-D-glycerate <=> ADP + 3-phospho-D-glyceroyl phosphate

    Zie ook de glycolyse

     
  22. Phosphoglycerate mutase deficiŽntie

    OMIM: 261670

    OMIM: Clinical Synopsis

    ExPASy: Phosphoglycerate mutase EC 5.4.2.1

    Enzym synoniemen: Phosphoglycerate phosphomutase. Phosphoglyceromutase. PGAM.

    2-phospho-D-glycerate + 2,3-diphosphoglycerate <=> 3-phospho-D-glycerate + 2,3-diphosphoglycerate

    Zie ook de glycolyse

     
  23. Lactate Dehydrogenase  A deficiŽntie

    OMIM: 150000

    ExPASy: L-lactate dehydrogenase  EC 1.1.1.27

    Enzym synoniemen: L-lactic acid dehydrogenase. L-lactic dehydrogenase

    (S)-lactate + NAD+ <=> pyruvate + NADH

     
  24. Lactate Dehydrogenase  B deficiŽntie

    OMIM:  150100

     
  25. Lactate Dehydrogenase  C deficiŽntie

    OMIM: 150150

 


Stoornissen in de galactose stofwisseling

 

  1. Galactosemie II  ( galactokinase deficiŽntie )

    Synoniemen: GALK deficiŽntie

    OMIM:  230200


    OMIM: Clinical Synopsis

    e-Medicine: Galactokinase Deficiency

    ExPASy: Galactokinase  EC 2.7.1.6

    ATP + alpha-D-galactose <=> ADP + alpha-D-galactose-1-phosphate

     
  2. Klassieke Galactosemie      ( galactose-1-fosfaat-uridyltransferase deficiŽntie  )

    Synoniemen:   GALT deficiency;  Classic Galactosemia

    OMIM: 230400


    OMIM: Clinical Synopsis

    e-Medicine: Galactose-1-phosphate Uridyltransferase Deficiency

    ExPASy: UTP--hexose-1-phosphate uridylyltransferase  EC 2.7.7.10

    Enzym synoniemen: Galactose-1-phosphate uridylyltransferase

    galactose-1-phosphate + UDP-glucose   < = > UDP-galactose + glucose 1-phosphate

    Extra informatie :
    Galactosemie Informatie Nederland ;   Galactosemie Vereniging Nederland

     
  3. Galactosemie III  ( Galactose Epimerase Deficiency )

    Synoniemen:  Uridine difosfaat galactose-4-epimerase deficiŽntie; UDP-galactose 4-epimerase deficiency; Gale Deficiency

    OMIM: 230350


    OMIM: Clinical Synopsis

    ExPASy:  UDP-glucose 4-epimerase  EC 5.1.3.2

    Enzym synoniemen: UDP-galactose 4-epimerase,  Galactowaldenase,  Uridine diphosphate galactose 4-epimerase, Uridine diphospho-galactose-4-epimerase

    UDP-glucose + UDP-glucose 4-epimerase > UDP-galactose + UDP-glucose 4-epimerase

 

 

Pentosurie ( Pentosuria )

 

  1. Pentosuria

    Synoniemen:   Xylitol Dehydrogenase DeficiŽntie;    L-Xylulose Reductase deficiency;  L-Xylulosuria

    OMIM:  260800


    OMIM: Clinical Synopsis

    ExPASy: D-xylulose reductase   EC 1.1.1.9

    Enzym synoniemen: Xylitol dehydrogenase

    Xylitol + NADP+  <=> L-xylulose + NADPH 

 

 

Congenital Disorders of Glycosylation or CDG

oude term: Carbohydrate-deficient Glycoprotein Syndrome

 

Extra informatie: Congenitale defecten in de glycosylering: het CDG-syndroom

Extra informatie: Congenital disorders of Glycosylation KU Leuven

Extra informatie: CDG Family Network Foundation

 

GROEP I

Defects in N-linked protein  glycosylation
due to
deficiencies in the assembly of the dolichylpyrophosphate linked oligosaccharides
and/or its
 transfer to asparagine resdues on the nascent polypeptides.

 

  1. Congenital disorder of glycosylation, Type Ia   ( Ziekte van Jaeken )

    Synoniemen:  CDG Ia;   Jaeken Syndrome;  Carbohydrate-deficient glycoprotein syndrome type Ia ( CDG Ia );Carbohydrate-deficient glycoprotein syndrome type I;  Phosphomannomutase 2 deficiency; PMM2 Deficiency.

    OMIM: 212065

    OMIM: Clinical Synopsis

    OMIM: Phosphomannomutase 2


     
  2. Congenital disorder of glycosylation, Type Ib

    Synoniemen
    : Mannosephosphate  isomerase deficiency,  CDG Ib;   Carbohydrate-deficient glycoprotein syndrome type Ib; MPI Deficiency;   CDG, Gastrointestinal type.

    OMIM: 602579

    OMIM: Clinical Synopsis

    OMIM: Mannosephosphate isomerase

    ExPASy: Mannose-6-phosphate isomerase    EC 5.3.1.8

    Enzym synoniemen: Phosphomannose isomerase; Phosphomannoisomerase; Phosphohexoisomerase; Phosphohexomutase.

    D-mannose 6-phosphate <=> D-fructose 6-phosphate

     
  3. Congenital disorder of glycosylation,  Type Ic

    Synoniemen:  CDG Ic;  Carbohydrate-deficient glycoprotein syndrome type V ( CDGS5);Carbohydrate-deficient glycoprotein syndrome type I with deficient glycosylation of dolichol-linked oligosaccharide.

    OMIM: 603147

    OMIM: Clinical Synopsis

    OMIM: ALG6


     
  4. Congenital disorder of glycosylation, Type Id

    Synoniemen:  CDG Id;  Carbohydrate-deficient glycoprotein syndrome type IV;  CDGS4;  CDGS type IV;Mannosyltransferase VI deficiency

    OMIM: 601110

    OMIM: Clinical Synopsis


     
  5. Congenital disorder of glycosylation, Type Ie

    Synoniemen : Dolichol-phosphate-mannose synthase-1 deficiency

    OMIM:  603503

    ExPASy:  Dolichyl-phosphate beta-D-mannosyltransferase  EC 2.4.1.83

    Enzym synoniemen:  Dolichol-phosphate mannosyltransferase; Dolichol-phosphate mannose synthase; Mannosylphosphodolichol synthase. Mannosylphosphoryldolichol synthase.


    GDP-mannose  +  dolichyl phosphate <=> GDP  +  dolichyl D-mannosyl phosphate

     
  6. Congenital disorder of glycosylation, Type If

    Synoniemen:  Mannose-P-dolichol utilisation defect
     

 

GROEP II

Defects in the processing of N-glycans or addition of other glycans to proteins.

 

  1. Congenital disorder of glycosylation,  Type IIa

    Synoniemen:  CDGS IIa;  Carbohydrate-deficient glycoprotein syndrome type II; CDGS2; N-acetylglucosaminyltransferase II deficiency.

    OMIM: 212066

    OMIM: Clinical Synopsis

    ExPASy:  Alpha-1,6-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase   EC 2.4.1.143

    Enzym synoniemen: N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II.


    UDP-N-acetyl-D-glucosamine  +  alpha-D-mannosyl-1,6-(N-acetyl-beta-D-glucosaminyl-1,2-alpha-D-mannosyl-1,3)-beta-D-mannosyl-R <=> UDP +  N-acetyl-beta-D-glucosaminyl-1,2-alpha-D-mannosyl-1,6-(N-acetyl-beta-D-glucosaminyl-1,2-alpha-D-mannosyl-1,3)-beta-D-mannosyl-R

     
  2. Congenital disorder of glycosylationType IIb

    Synoniemen:  Glucosidase I deficiency

    OMIM: 606056

    OMIM: Clinical Synopsis

    OMIM: Glucosidase I


     
  3. Congenital disorder of glycosylationType IIc

    Synoniemen: CDG IIc;  Leukocyte adhesion deficiency type II;  LAD2;  Rambam-Hasharon syndrome; RHS.

    OMIM: 266265

    OMIM: Clinical Synopsis

    OMIM: GDP-Fucose transporter 1


     
  4. Congenital disorder of glycosylationType IId

    Synoniemen: CDG IId.

    OMIM:  607091

    OMIM: Clinical Synopsis

 

TYPE X

Genetic basis unknown

 

  1. Type X

 

 

Small - intestinal disaccharidases

 

  1. Disaccharide intolerance I    ( Congenital Sucrase-Isomaltase deficiency )

    Synoniemen: Congenital sucrose-isomaltose malabsorption; congenital sucrose intolerance

    OMIM: 222900


    OMIM: Clinical Synopsis

    ExPASy: 3.2.1.48

    Synoniemen: Sucrase-isomaltase, Sucrose alpha-glucohydrolase, Sucrase

    Hydrolysis of sucrose and maltose by an alpha-D-glucosidase-type action


     
  2. Trehalase deficiency

    ExPASy: EC 3.2.1.28   ( Alpha,alpha-trehalase )

    Alpha,alpha-trehalose +  H2O <=> 2 D-glucose

    e-Medicine: Toxicity,  Mushrooms

    Extra informatie: IPCS Inchem: trehalose


     
  3. Congenital Lactase deficiency

    e-Medicine: lactose intolerance

     
  4. Primary Adult type hypolactasia

 

 

Glucose Transporter Protein Syndrome:

 

  1. Glucose Transporter I Deficiency

    Synoniemen: GLUT 1 deficiency

    OMIM:   138140

 

 

 

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