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Metachromatic Leukodystrophy (MLD)
smpdb.ca/view/SMP0000347DiseaseCharacterized by an age of onset between 3 and 10. … An improperly function arylsulfatase enzyme can lead to the build up of 3-O-sulfogalactosylceramide in urine, neural and non neural tissues like kidney and gallbladder.
Fabry Disease
smpdb.ca/view/SMP0000525DiseaseThe symptoms include angiokeratomas, tinnitus, episodes of pain in the hands and feet and corneal opacity. … This condition can also lead to severe complications such as heart attack, stroke and kidney damage.
Krabbe Disease
smpdb.ca/view/SMP0000526Diseasesmall intestine and colon. … , and monogalactosyldiglyceride.
Globoid Cell Leukodystrophy
smpdb.ca/view/SMP0125686Diseasesmall intestine and colon. … , and monogalactosyldiglyceride.
Globoid Cell Leukodystrophy
smpdb.ca/view/SMP0000348Diseasesmall intestine and colon. … , and monogalactosyldiglyceride.
Fabry Disease
smpdb.ca/view/SMP0125688DiseaseThe symptoms include angiokeratomas, tinnitus, episodes of pain in the hands and feet and corneal opacity. … This condition can also lead to severe complications such as heart attack, stroke and kidney damage.
Gaucher Disease
smpdb.ca/view/SMP0000349DiseaseFor example, type 1 (GD1) involves hepato- and splenomegaly, and types 2 and 3 (GD2 and GD3) also typically affect the brain and spinal cord, and as such tend to be more severe and more likely to become … Symptoms include anemia, fatigue, hepatomegaly and splenomegaly, however these may vary based on the type of Gaucher disease.
Gaucher Disease
smpdb.ca/view/SMP0125685DiseaseFor example, type 1 (GD1) involves hepato- and splenomegaly, and types 2 and 3 (GD2 and GD3) also typically affect the brain and spinal cord, and as such tend to be more severe and more likely to become … Symptoms include anemia, fatigue, hepatomegaly and splenomegaly, however these may vary based on the type of Gaucher disease.
Metachromatic Leukodystrophy (MLD)
smpdb.ca/view/SMP0125687DiseaseCharacterized by an age of onset between 3 and 10. … An improperly function arylsulfatase enzyme can lead to the build up of 3-O-sulfogalactosylceramide in urine, neural and non neural tissues like kidney and gallbladder.
NMDA
smpdb.ca/view/SMP0127051PhysiologicalNMDA receptors (NMDARs) are glutamate-gated cation channels with high calcium permeability that play important roles in many aspects of the biology of higher organisms. … They are critical for the development of the central nervous system (CNS), generation of rhythms for breathing and locomotion, and the processes underlying learning, memory, and neuroplasticity.
Enzymes: Voltage-dependent P/Q-type calcium channel subunit alpha-1A