De Lysosomale stapelingsziekten

 

 

Glycogen Storage Disease Type II:

Glycogeen Stapelingsziekte Type II:

Acid a-Glucosidase Deficiency ( Acid Maltase ) Deficiency:

 

  1. Glycogen Storage Disease II    ( Ziekte van Pompe )

    Synoniemen: Acid Alpha Glucosidase Deficiency;  GAA Deficiency;  Pompe Disease;  Cardiac Form of Generalized Glycogenosis; Cardiomegalia Glycogenica Diffusa;  Acid Maltase Deficiency
    ( AMD ); Alpha-1,4-glucosidase Deficiency
     
    OMIM:  232300

    OMIM: Clinical Synopsis

    e-Medicine: 
    Glycogen Storage Disease Type II

    Extra informatie : Pompe's Disease Page ;    Acid Maltase Deficiency Association  ;

    Pompe Center: Erasmus MC

    ExPASy: Alpha-glucosidase  EC 3.2.1.2

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

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

     

 

De Mucopolysaccharidosen:

( The Mucopolysaccharidoses )

 

  1. Mucopolysaccharidosis Type I  ( Ziekte van Hurler )

    Synoniemen: MPSI;  MPS I;  Alpha-L-Iduronidase Deficiency;  IDA Deficiency;  IDUA Deficiency; Hurler Syndrome.

    OMIM: 252800

    OMIM: Clinical Synopsis

    Who Named It?:  Gertrud Hurler

    e-Medicine: 
    Mucopolysaccharidosis Type I H

    ExPASy:     L-iduronidase   
     EC 3.2.1.76

    Hydrolysis of alpha-L-iduronosidic linkages in desulfated dermatan


     
  2. Mucopolysaccharidosis Type I S   ( Ziekte van Scheie )

    Synoniemen: MPS I S;  Scheie Syndrome

    OMIM: 252800

    OMIM: Clinical Synopsis


    Who Named It?:  Harold Glendon Scheie

    e-Medicine: 
    Mucopolysaccharidosis Type I S

    ExPASy:     L-iduronidase   
     EC 3.2.1.76

    Hydrolysis of alpha-L-iduronosidic linkages in desulfated dermatan


     
  3. Mucopolysaccharidosis Type I H/S  ( Ziekte van Hurler-Scheie )

    Synoniemen:  MPS I H/S

    OMIM: 252800

    OMIM: Clinical Synopsis

    Who Named It?:  Gertrud Hurler

    Who Named It?:  Harold Glendon Scheie

    e-Medicine: 
    Mucopolysaccharidosis Type I H/S

    ExPASy:     L-iduronidase   
     EC 3.2.1.76

    Hydrolysis of alpha-L-iduronosidic linkages in desulfated dermatan


     
  4. Mucopolysaccharidosis Type II  ( MPS IIA-severe ) ( Ziekte van Hunter )

    Synoniemen: Hunter Syndrome;  Iduronate-2-sulfatase deficiency; MPS II; MPS2; IDS Deficiency; Sulfoiduronate sulfatase Deficiency;  SIDS Deficiency

    OMIM:  309900

    OMIM: Clinical Synopsis

    Who Named It?: Charles A. Hunter

    e-Medicine:
    Mucopolysaccharidosis Type II

    ExPASy: Iduronate-2-sulfatase
    .  EC 3.1.6.13

    Enzym synoniemen: Chondroitinsulfatase

    Hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin


     
  5. Mucopolysaccharidosis Type II  ( MPS IIB- mild )

    OMIM:  309900

    OMIM: Clinical Synopsis

    e-Medicine:
    Mucopolysaccharidosis Type II

    ExPASy: Iduronate-2-sulfatase
    .  EC 3.1.6.13

    Enzym synoniemen: Chondroitinsulfatase


    Hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin


     
  6. Mucopolysaccharidosis Type IIIA   ( Ziekte van Sanfillipo type A )

    Synoniemen: MPSIIIA; MPS3A;
    Sanfilippo Syndrome A;  Heparan Sulfate Sulfatase Deficiency; Sulfamidase Deficiency

    OMIM: 252900

    OMIM: Clinical Synopsis

    e-Medicine:
    Mucopolysaccharidosis Type III

    ExPASy: N-sulfoglucosamine sulfohydrolase  EC 3.10.1.1

    Enzym synoniemen: Sulfoglucosamine sulfamidase; Sulphamidase.


    N-sulfo-D-glucosamine +  H2O  <=>  D-glucosamine +  sulfate


     
  7. Mucopolysaccharidosis Type IIIB   ( Ziekte van Sanfilippo type B )

    Synoniemen:
    Sanfilippo Syndrome B;  N-Acetyl-Alpha-D-Glucosaminidase Deficiency;  MPSIIIB; MPS3B; NAGLU Deficiency

    OMIM:  252920

    OMIM: Clinical Synopsis


    e-Medicine: 
    Mucopolysaccharidosis Type III

    ExPASy: Alpha-N-acetylglucosaminidase  EC 3.2.1.50

    Enzym synoniemen: N-acetyl-alpha-glucosaminidase;  NAG.


    Hydrolyzes UDP-N-acetylglucosamine


     
  8. Mucopolysaccharidosis Type IIIC   ( Ziekte van Sanfilippo type C )

    Synoniemen: Sanfilippo Syndrome C; Acetyl CoA: Alpha-Glucosaminide N-Acetyltransferase Deficiency; MPSIIIC; MPS3C


    OMIM: 252930

    OMIM: Clinical Synopsis


    e-Medicine: 
    Mucopolysaccharidosis Type III

    ExPASy: Heparan-alpha-glucosaminide N-acetyltransferase  EC 2.3.1.78


    Acetyl-CoA +  heparan alpha-D-glucosaminide  <=> CoA  +  heparan N-acetyl-alpha-D-glucosaminide


     
  9. Mucopolysaccharidosis Type IIID    ( Ziekte van Sanfilippo type D )

    Synoniemen:
     Sanfilippo Syndrome D;  N-Acetylglucosamine-6-sulfatate sulfatase deficiency;  MPSIIID

    OMIM: 252940

    OMIM: Clinical Synopsis


    e-Medicine: 
    Mucopolysaccharidosis Type III

    ExPASy:  N-acetylglucosamine-6-sulfatase  EC 3.1.6.14

    Enzym synoniemen: Glucosamine-6-sulfatase; Chondroitinsulfatase


    Hydrolysis of the 6-sulfate group of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.


     
  10. Mucopolysaccharidosis Type IVA     (  Ziekte van Morquio type A )

    Synoniemen: Morquio Syndrome A  Galactosamine-6-sulfatase deficiency;  MPSIVA; MPS4A;  GALNS Deficiency

    OMIM: 253000

    OMIM: Clinical Synopsis

    Who Named It?:  LuŪs Morquio

    e-Medicine:
    Mucopolysaccharidosis Type IV

    Extra informatie: Vereniging Morquio

    ExPASy:   
    N-acetylgalactosamine-6-sulfatase   EC 3.1.6.4

    Enzym synoniemen: Chondroitinsulfatase; Chondroitinase; Galactose-6-sulfate sulfatase


    Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of theD-galactose 6-sulfate units of keratan sulfate

     

     

  11. Mucopolysaccharidosis Type IVB     ( Ziekte van Morquio type B )

    Synoniemen: Morquio Syndrome B Beta-Galactosidase Deficiency;  MPSIVB;  MPS4B

    OMIM: 253010

    OMIM: Clinical Synopsis

    Who Named It?:  LuŪs Morquio

    e-Medicine:
    Mucopolysaccharidosis Type IV

    Extra informatie: Vereniging Morquio

    E
    xPASy:  
    Beta-galactosidase  EC 3.2.1.23

    Enzym synoniemen: Lactase;  Exo-(1->4)-beta-D-galactanase


    Hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides


     
  12. Mucopolysaccharidosis Type V    wordt niet langer gebruikt.


     
  13. Mucopolysaccharidosis Type VI    ( Ziekte van Maroteaux-Lamy )

    Synoniemen:  Maroteaux-Lamy Syndrome;  Arylsulfatase B Deficiency ;  MPSVI;  MPS6; ARSB Deficiency;
    N-Acetylgalactosamine-4-sulfatase deficiency

    OMIM:  253200

    OMIM: Clinical Synopsis

    Who Named It?:  Pierre Maroteaux  ;  Maurice Emile Joseph Lamy

    e-Medicine:
    Mucopolysaccharidosis Type VI

    ExPASy:  
    N-acetylgalactosamine-4-sulfatase   EC 3.1.6.12

    Enzym synoniemen: Arylsulfatase B; Chondroitinsulfatase; Chondroitinase.


    Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.


     
  14. Mucopolysaccharidosis Type VII    ( Ziekte van Sly )

    Synoniemen:  Sly Syndrome;  beta-glucuronidase deficiency ; MPSVII; MPS7; GUSB Deficiency

    OMIM:  253220

    OMIM: Clinical Synopsis

    e-Medicine: 
     Mucopolysaccharidosis Type VII

    ExPASy: 
    Beta-glucuronidase    EC 3.2.1.31


    A beta-D-glucuronoside +  H2O <=>  an alcohol +  D-glucuronate

     

  15. Mucopolysaccharidosis Type VIII       wordt niet langer gebruikt.

     


 

Pycnodysostosis:

Cathepsin K deficiency

 

  1. Pycnodysostosis

    OMIM:  265800

    OMIM: Clinical Synopsis

 

 

 

Ziekten betreffende de fosforylisatie en lokalisatie van Lysosomale enzymen:

I-Cell Disease and Pseudo-Hurler  Polydystrofy:

( Mucolipidose type II en type III )

 

  1. Mucolipidosis II  ( Mucolipidose type II )  ( I-Cell disease )

    Synoniemen:
    I-Cell disease; ICD;  MLII;  ML2;  N-Acetylglucosamine-1-phosphotransferase deficiency; GNPTA deficiency

    OMIM: 252500

    OMIM: Clinical Synopsis

    e-Medicine:
    I-Cell Disease (Mucolipidosis Type II)

    Extra informatie: I-Cell disease

    ExPASy: 
    UDP-N-acetylglucosamine--lysosomal-enzyme N-acetylglucosaminephosphotransferase   EC 2.7.8.17

    UDP-N-acetyl-D-glucosamine +  lysosomal-enzyme D-mannose <=> UMP  +  lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose


     
  2. Mucolipidosis III  ( Mucolipidose type III )

    S
    ynoniemen: Pseudo-Hurler Polydystrofie;  ML III; ML3

    OMIM:  252600

    OMIM: Clinical Synopsis

     

 

a-N-Acetylgalactosaminidase Deficiency:

Schindler Disease

( Ziekte van Schindler )

  1. Schindler Disease

    OMIM: 104170

    OMIM: Clinical Synopsis:

    ExPASY: Alpha-N-acetylgalactosaminidase   EC 3.2.1.49

    Enzym synoniemen:  Alpha-galactosidase B. Alpha-NAGA.


    Splits N-acetylgalactosaminyl groups from O-3 of Ser and Thr.


     
  2. Schindler Disease Type II

 


Ziekten betreffende de structuur en degradatie van GlycoproteÔnen:
 

  1. Lysosomal Alpha B Mannosidosis  ( a-mannosidose)

    Synoniemen: Alpha Mannosidosis;  Lysosomal Alpha-D-Mannosidase Deficiency; Alpha Mannosidase B Deficiency

    OMIM:  248500

    OMIM: Clinical Synopsis

    ExPASy: Alpha-mannosidase  EC 3.2.1.24


    Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides


     
  2. Lysosomal Beta A Mannosidosis   ( b-mannosidose )

    Synoniemen:  BŤta Mannosidosis ( MANB1 );  Beta Mannosidase Deficiency; Beta Mannosidosis

    OMIM: 248510

    OMIM: Clinical Synopsis

    ExPASy: Beta-mannosidase  EC 3.2.1.25

    Enzym synoniemen: Mannanase; Mannase


    Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.

     
  3. Fucosidosis  ( Fucosidose )

    Synoniemen:
    Alfa -L-fucosidase deficiency

    OMIM: 230000

    OMIM: Clinical Synopsis

    ExPASy: Alpha-L-fucosidase
       EC 3.2.1.51

    Enzym synoniemen: Alpha-L-fucoside fucohydrolase


    een alpha-L-fucoside + H2O <=> een alcohol + L-fucose

     
  4. Neuraminidase deficiency  ( neuraminidase deficiŽntie )

    Synoniemen:    Sialidosis  Types I and II;  Cherry Red Spot and Myoclonus Syndrome;  Sialidase Deficiency;
     NEUI deficiency; Glycoprotein Neuraminidase deficiency; NEUG Deficiency; Neuraminidase I Deficiency; NEU Deficiency.

    OMIM: 256550

    OMIM: Clinical Synopsis

    ExPASy: Exo-alpha-sialidase   EC 3.2.1.18

    Enzym synoniemen; Sialidase. Neuraminidase. N-acylneuraminate glycohydrolase. Alpha-neuraminidase


    Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)-glycosidic linkages of terminal sialic residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates

     
  5. Aspartylglucosaminuria  ( aspartylglucosaminurie )

    Synoniemen: Glycosylasparaginase deficiency ; Aspartylglucosaminidase Deficiency;  AGU;  AGA Deficiency; Glycoasparaginase;
    Aspartylglycosaminuria

    OMIM: 208400

    OMIM: Clinical Synopsis

    ExPASy:   N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase  EC 3.5.1.26

    Enzym synoniemen:
    Aspartylglucosylamine deaspartylase. Aspartylglucosylaminidase. Glycosylasparaginase


    N4-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H2O <=> N-acetyl-beta-glucosaminylamine + L-aspartate

     
  6. Glutamyl Ribose-5-Phosphate Storage Disease

    Synoniemen: ADP-Ribose Protein Hydrolase Deficiency

    OMIM: 306920

     
  7. Infantile Sialic Acid Storage Disorder    (  Siaalzuur stapelingsziekte )

    Synoniemen:  ISSD;  Sialuria ( infantile form );  N-Acetylneuraminic acid storage disease;  NANA storage disease; NSD.

    OMIM: 269920

    OMIM: Clinical Synopsis

    OMIM: Sialin


     
  8. Sialuria, Finnish type

    Synoniemen: Salla disease

    OMIM: 604369

    OMIM: Clinical Synopsis

     

 

Acid Lipase Deficiency:
 

  1. Wolman Disease ( severe infantile onset )

    Synoniemen: Lysosomal Acid Lipase Deficiency;  LIPA Deficiency; LAL Deficiency; Acid Cholesteryl Ester Hydrolase Deficiency; Cholesterol ester hydrolase deficiency; Cholesterol ester storage disease; Cholesteryl ester storage disease; Acid cholesteryl ester hydrolase deficiency, type II.

    OMIM: 278000

    OMIM: Clinical Synopsis

    Who named it?:
    Moshe Wolman

    ExPASy: Sterol esterase  EC 3.1.1.13

    Enzym synoniemen: Cholesterol esterase. Cholesterol ester synthase. Triterpenol esterase


    A steryl ester  +  H2O  <=>   a sterol  a fatty acid

     
  2. Cholesteryl Ester Storage Disease  ( mild late onset )  ( Cholesteryl ester stapelingsziekte )

    OMIM: 278000

    OMIM: Clinical Synopsis

    ExPASy: Sterol esterase  EC 3.1.1.13

    Enzym synoniemen: Cholesterol esterase.Cholesterol ester synthase. Triterpenol esterase


    A steryl ester  +  H2O  <=>   a sterol  a fatty acid
     

 

Ceramidase Deficiency: Farber Lipogranulomatosis:

( Ziekte van Farber )
 

  1. Farber Lipogranulomatosis

    Synoniemen:  Farber Disease;  Ceramidase deficiency; Acid ceramidase deficiency; AC deficiency; N-Laurylsphingosine deacylase deficiency.

    OMIM: 228000

    OMIM: Clinical Synopsis

    Who Named It?:  Sidney Farber

    ExPASy:  Ceramidase  EC 3.5.1.23

    Enzym synoniemen:  Acylsphingosine deacylase


    N-acylsphingosine + H2O <=> a fatty acid + sphingosine


 

Niemann-Pick Diseases Types A and B:

Acid Sphingomyelinase Deficiencies:
 

  1. Niemann-Pick Disease Type A, B and E

    Synoniemen: Sphingomyelin lipidosis;  Sphingomyelinase deficiency

    OMIM: 257200

    OMIM: Clinical Synopsis

    Who Named It?:  Albert Niemann ;   Ludwig Pick

    e-Medicine: Niemann-Pick Disease

    ExPASy: Sphingomyelin phosphodiesterase   EC 3.1.4.12

    Enzymsynoniemen: Neutral sphingomyelinase; Acid sphingomyelinase; 

    Sphingomyelin + H2O <=> N-acylsphingosine + choline phosphate
     

 

Niemann-Pick Disease Type C:

A Cellular Cholesterol Lipidosis:

( Ziekte van Niemann-Pick type C )

 

  1. Niemann-Pick Disease Type C

    Synoniemen: NPC;  Niemann-Pick Diease Type C1;  Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, subacute juvenile form;  Niemann-Pick disease, chronic neuropathic form.

    OMIM: 257220

    OMIM: Clinical Synopsis

    Who Named It?:  Albert Niemann ;   Ludwig Pick


     
  2. Niemann-Pick Disease Type C2

    OMIM: 601015

    Who Named It?:  Albert Niemann ;   Ludwig Pick

     

 

           Niemann-Pick disease without sphingomyelinase deficiency:
 

  1. Niemann-Pick disease without sphingomyelinase deficiency

    Synoniemen: Niemann-Pick disease, Nova Scotian type;  Niemann-Pick Disease Type D

    OMIM: 257250 moved to 257220

    Who Named It?:  Albert Niemann ;   Ludwig Pick

 


Gaucher Disease:

( Ziekte van Gaucher )
 

Extra informatie: Gaucher Vereniging Nederland

Extra informatie: The National Gaucher Foundation

Extra informatie: Gauchers Association

Extra informatie: Gaucher Disease  ( pdf-document: hier heeft u Acrobat Reader voor nodig )
 

  1. Gaucher Disease, Type I

    Synoniemen:  GD I;  Glucocerebrosidase Deficiency;  Gaucher disease, Noncerebral Juvenile;
     Acid Beta-Glucosidase Deficiency;GBA Deficiency.

    OMIM: 230800


    OMIM: Clinical Synopsis


    e-Medicine:
    Gaucher Disease ;

    Gaucher Vereniging Nederland

    ExPASy: 
    Glucosylceramidase  EC 3.2.1.45

    Enzym synoniemen:
    Beta-glucocerebrosidase. Acid beta-glucosidase. D-glucosyl-N-acylsphingosine glucohydrolase.

    D-glucosyl-N-acylsphingosine  +  H2O  <=>    D-glucose +  N-acylsphingosine

     
  2. Gaucher Disease, Type II

    Synoniemen:  GD II;   Gaucher Disease, Infantile Cerebral;  Gaucher Disease, Acute Neuronopathic type.


    OMIM: 230900

    OMIM: Clinical Synopsis


    e-Medicine:
    Gaucher Disease ;


    Gaucher Vereniging Nederland

    ExPASy: 
    Glucosylceramidase  EC 3.2.1.45

    Enzym synoniemen:
    Beta-glucocerebrosidase. Acid beta-glucosidase. D-glucosyl-N-acylsphingosine glucohydrolase.

    D-glucosyl-N-acylsphingosine  +  H2O  <=>    D-glucose +  N-acylsphingosine

     
  3. Gaucher Disease, Type III

    Synoniemen:  GD III;  Gaucher Disease, juvenile and adult, cerebral;  Gaucher Disease, chronic neuronopathic type; Gaucher Disease, subacute neuronopathic type.

    OMIM: 231000

    OMIM: Clinical Synopsis


    e-Medicine:
    Gaucher Disease ;

    Gaucher Vereniging Nederland

    ExPASy: 
    Glucosylceramidase  EC 3.2.1.45

    Enzym synoniemen:
    Beta-glucocerebrosidase. Acid beta-glucosidase. D-glucosyl-N-acylsphingosine glucohydrolase.

    D-glucosyl-N-acylsphingosine  +  H2O  <=>    D-glucose +  N-acylsphingosine

 

 

Galactosylceramide Lipidosis:

Globoid-Cell Leukodystrophy

Krabbe Disease

( Ziekte van Krabbe )

 

Extra informatie : Ziekte van Krabbe: vroege infantiele vorm

Extra informatie: Haley's Hope
 

  1. Krabbe Disease

    Synoniemen:  Globoid-cell leukodystrophy;  GLD;  GCL;  Globoid-cell leukoencephalopathy; Galactocerebrosidase deficiency;Galactocylceramide beta-galactosidase deficiency.

    OMIM: 245200

    OMIM: Clinical Synopsis

    Who Named It?:  Knud Haraldsen Krabbe

    e-Medicine: 
    Krabbe Disease

    ExPASy: Galactosylceramidase  EC 3.2.1.46

    Enzym synoniemen: Galactocerebrosidase. Galcerase. Galactosylceramide beta-galactosidase. Galactocerebroside beta-galactosidase


    D-galactosyl-N-acylsphingosine +  H2O  <=>D-galactose  +  N-acylsphingosine

 

 

Metachromatic leukodystrophy

and

Multiple Sulfatase Deficiency:

Sulfatide Lipidosis

 

Extra informatie: Metachromatische leukodystrofie
 

  1. Metachromatic Leukodystrophy  ( metachromatische leukodystrofie )

    Synoniemen: MLD; Metachromatische Leukoencephalopathie; Sulfatide Lipidose; Arylsulfatase A DeficiŽntie ;ARSA DeficiŽntie; Cerebroside Sulfatase DeficiŽntie

    OMIM:  250100

    OMIM: Clinical Synopsis

    e-Medicine:  Metachromatic Leukodystrophy

    ExPASy: Cerebroside-sulfatase   EC 3.1.6.8

    Enzym synoniemen: Arylsulfatase A.


    A cerebroside 3-sulfate +  H2O  <=> a cerebroside  +  sulfate

     
  2. Multiple Sulfatase Deficiency

    Synoniemen: MSD;  Mucosulfatidosis;  Juvenile sulfatidosis, Austin Type.

    OMIM: 272200

    OMIM: Clinical Synopsis

    ExPASy:  Human Arylsulfatase and Glycosaminoglycan Sulfatases involved with Multiple Sulfatase Deficiency:

    Arylsulfatase A
      EC 3.1.6.8

    Arylsulfatase B  EC 3.1.6.12

    Arylsulfatase C  EC 3.1.6.2

    L-iduronidase   
     EC 3.2.1.76

    N-sulfoglucosamine sulfohydrolase  EC 3.10.1.1

    N-acetylgalactosamine-6-sulfatase   EC 3.1.6.4

    N-acetylglucosamine-6-sulfatase  EC 3.1.6.14

 

 

a-Galactosidase A Deficiency:

Fabry Disease

( Ziekte van Fabry )

 

Extra informatie:   Fabry Support en Informatie Groep Nederland
 

  1. Fabry Disease

    Synoniemen:  Diffuse Angiokeratoma;  Anderson-Fabry Disease;  Hereditary Distopic Lipidosis; Alpha Galactosidase A deficiency;GLA Deficiency;  Ceramide Trihexosidase Deficiency.

    OMIM:  301500

    OMIM: Clinical Synopsis

    Who Named It?:  Johannes Fabry

    e-Medicine:
    Fabry Disease

    e-Medicine: New Therapies

    ExPASy:  Alpha-galactosidase    EC 3.2.1.22

    Enzym synoniemen:  Melibiase


    Melibiose +  H2O  <=>  galactose  +  glucose
     

 

b-Galactosidase Deficiency ( b-Galactosidosis ):

Gm1 Gangliosidosis and Morquio B Disease

 

  1. Gangliosidosis, generalized Gm1,  Type I

    Synoniemen: Beta Galactosidase 1 Deficiency;  GLB1 Deficiency

    OMIM: 230500

    OMIM: Clinical Synopsis

    e-Medicine:
    GM1 Gangliosidosis

    ExPASy:  Beta-galactosidase  EC 3.2.1.23

    Enzym synoniemen: Lactase;  Exo-(1->4)-beta-D-galactanase


    Hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides.

     
  2. Gangliosidosis, generalized Gm1,  Type II, or juvenile type

    OMIM: 230600

    OMIM: Clinical Synopsis


     
  3. Gangliosidosis, generalized Gm1,  Type III, or adult type

    OMIM:  230650

    OMIM: Clinical Synopsis


     
  4. Morquio Disease, Type B

    OMIM: 253010

    OMIM: Clinical Synopsis

    Who Named It?:  LuŪs Morquio

    e-Medicine:
    Mucopolysaccharidosis Type IV

    Extra informatie: Vereniging Morquio

    E
    xPASy:  
    Beta-galactosidase  EC 3.2.1.23

    Enzym synoniemen: Lactase;  Exo-(1->4)-beta-D-galactanase


    Hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides

 

 

Galactosialidosis

 

  1. Neuraminidase deficiency with beta-galactosidase deficiency

    Synoniemen:  Goldberg syndrome;  Galactosialidosis;  GSL;  Neuraminidase / beta-galactosidase expresion;  NGBE;  Deficiency of lysosomal protective protein;  Deficiency of cathepsin A;  Protective protein/cathepsin A deficiency; PPCA deficiency.

    OMIM: 256540

    OMIM: Clinical Synopsis

 

 

The Gm2 Gangliosidoses

 

  1. Tay-Sachs Disease  ( TSD )  ( Ziekte van Tay-Sachs )

    Synoniemen:  Gm2 Gangliosidosis type I;  B variant GM2 Gangliosidosis;  Hexosaminidase A deficiency; HEXA Deficiency.

    OMIM: 272800

    OMIM: Clinical Synopsis

    OMIM: Hexosaminidase A; HEXA

    Who Named It?:  Warren Tay ; Bernard Sachs

    ExPASy:  Beta-N-acetylhexosaminidase   EC 3.2.1.52

    Enzym synoniemen:  Beta-hexosaminidase;  Hexosaminidase;  N-acetyl-beta-glucosaminidase


    Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.

     
  2. Sandhoff  Disease  ( Ziekte van Sandhoff )

    Synoniemen:  GM2 Gangliosidosis Type II;  Hexosaminidases A and B Deficiency.

    OMIM:  268800

    OMIM: Clinical Synopsis

    OMIM: Hexosaminidase B; HEXB

    Who named it?:
    Konrad Sandhoff

    ExPASy:  Beta-N-acetylhexosaminidase   EC 3.2.1.52

    Enzym synoniemen:  Beta-hexosaminidase;  Hexosaminidase;  N-acetyl-beta-glucosaminidase

    Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.

     
  3. Tay-Sachs Disease, AB variant

    Synoniemen:  Hexosaminidase activator deficiency;  GM2 gangliodidosis type AB;  AB variant GM2 gangliosidosis.

    OMIM:  272750

    OMIM: Clinical Synopsis

    Who Named It?:  Warren Tay ; Bernard Sachs


     
  4. Gangliosidosis, GM2, Juvenile, A( M )B variant

    OMIM: 230710

    OMIM: Clinical Synopsis

     

 

Lysosomale transport stoornissen

 

  1. Cystinosis, nephropathic; CTNS    ( infantiele cystinose )

    Synoniemen:  Defect of lysosomal cystine transport protein;  Defect of cystinosin.

    OMIM: 219800

    OMIM: Clinical Synopsis

    OMIM:  Cystinosin


     
  2. Cystinosis, late-onset juvenile or adolescent nephropathic type  ( Juveniele cystinose )

    OMIM: 219900

    OMIM: Clinical Synopsis

    OMIM:  Cystinosin


     
  3. Cystinosis, adult nonnephropathic   ( Volwassen cystinose )

    Synoniemen:  Cystinosis, ocular nonnephropathic;  Cystinosis, benign nonnephropathic.

    OMIM:  219750

    OMIM: Clinical Synopsis

    OMIM:  Cystinosis


     
  4. Sialuria, Finish type

    Synoniemen:  Salla Disease;  SD.

    OMIM:  604369

    OMIM: Clinical Synopsis


     
  5. Infantile Sialic Acid Storage Disorder    (  Siaalzuur stapelingsziekte )

    Synoniemen:  ISSD;  Sialuria ( infantile form );  N-Acetylneuraminic acid storage disease;  NANA storage disease; NSD.

    OMIM: 269920

    OMIM: Clinical Synopsis

    OMIM: Sialin

 

 

 

Neuronal Ceroid Lipofuscinoses
 

e-Medicine: Neuronal Ceroid Lipofuscinoses

GeneReviews: Neuronal Ceroid Lipofuscinoses
 

1    Ceroid Lipofuscinosis, neuronal, dominant, Parry Type

2    Ceroid Lipofuscinosis, neuronal 1, infantile ( Santavuori of Santavuori-Haltia Disease )

3    Ceroid Lipofuscinosis, neuronal 2, late infantile ( Jansky Bielschowsky Disease )

      Who named it? Jan Jansky Max Bielschowsky

4    Ceroid Lipofuscinosis, neuronal 3, juvenile, ( Vogt-Spielmeyer Disease; Batten disease;
       Spielmeyer-Sjogren disease
)

       Who named it?: Frederick Eustace Batten;     Karl Gustaf Torsten SjŲgren;

       Heinrich Vogt;   Walther Spielmeyer

5    Ceroid Lipofuscinosis, neuronal 4 ( Kufs Disease )

       Who named it?: Hugo Friedrich Kufs

6    Ceroid Lipofuscinosis, neuronal 5

7    Ceroid Lipofuscinosis, juvenile neuronal, with granular osmiophilic deposits

8    Ceroid Lipofuscinosis, neuronal 6, late infantile, variant

9    Ceroid Lipofuscinosis, neuronal, 8

 

 

 

 

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