logo
Contact
Related Sites
Download
Our patron
Sponsorship
 
logo

 


Stored material:

Sphingolipids
(number of deficiencies: 12)
Fabry, Farber, Gaucher, GM1-Gangliosidosis, Krabbe, Metachromatic
leucodystrophy, Niemann-Pick types A and B, Sandhoff, Tay Sachs

Mucopolysaccharides
(number of deficiencies: 10)
Hurler (MPS-I), Scheie (MPS-I), Hunter (MPS-II), Sanfilippo ((MPS-IIIA,B,C,D), Morquio (MPS-IVA,B), Maroteaux-Lamy (MPS-VI), Sly (MPS-VII)

Glycogen
(number of deficiencies: 2)
Pompe

Oligosaccharides
(number of deficiencies: 6)
Aspartylglucosaminuria, Fucosidosis, Mannosidosis, Schindler, Sialidosis

Multiple compounds
(number of deficiencies: 3)
Galactosialidosis, Mucolipidosis types II and III, Multiple sulphatase deficiency, Pseudo-Hurler dystrophy, I-Cell disease

Cholesterol
(number of deficiencies: 3)
Niemann-Pick type C1 & C2, Wolman

Amino acids/sugars
(number of deficiencies: 3)
Cystinosis, Infantile Sialic Acid Storage, Salla

Peptides
(number of deficiencies: 1)
Pycnodysostosis

Proteins
(number of deficiencies: 5)
Batten, Ceroid Lipofuscinosis

See table on page 5 of the LDA Newsletter for further detail.

 

 

 
logo
Symtons
Future Hope
Treatment
Lysosomal Diseases
Newsletter