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?:  Luís 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?:  Luís Morquio
    
    e-Medicine: Mucopolysaccharidosis Type IV
    
    Extra informatie: Vereniging Morquio
    
    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
    
    
     
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 )
   
   Synoniemen: 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 Glycoproteïnen:
 

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:  Bèta 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 deficiëntie )
   
   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 Deficiëntie ;ARSA Deficiëntie; Cerebroside Sulfatase Deficiëntie
   
   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 ):

G_m1 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?:  Luís Morquio
   
   e-Medicine: Mucopolysaccharidosis Type IV
   
   Extra informatie: Vereniging Morquio
   
   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

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 G_m2 Gangliosidoses

1. Tay-Sachs Disease  ( TSD )  ( Ziekte van Tay-Sachs )
   
   Synoniemen:  G_m2 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 Sjögren;

       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