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Stored
material:
Sphingolipids
(number of deficiencies: 12)
Fabry, Farber, Gaucher, GM1-Gangliosidosis, Krabbe, Metachromaticleucodystrophy,
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.
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