Most LSDs are recessive diseases. They are all genetic conditions inherited, mostly in a recessive way except for Fabry and PS1 and Danon Disease which are x-linked. This is why getting a family history is really important when investigating a patient suspected of having an LSD. The organs that are affected in each LSD are determined by the normal site of degradation of each substrate, meaning that if the enzyme is active in a certain tissue or organ if that enzyme becomes dysfunctional then the accumulation of that substrate is going to occur in that specific tissue. Those are some of the specific tissues that we see accumulation in. Macrophages in Gaucher and Niemann-Pick, vascular endothelium in Fabry Disease, muscle in Pompe Disease, connective tissue in the MPS’s mucopolysaccharidoses, and the brain in Tay-Sachs, Neuronal ceroid lipofuscinosis, Krabbe and metachromatic leukodystrophy.
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