Lysosomal Storage Diseases
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Flashcards about Lysosomal Storage Diseases
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30 Terms
What is the storage product in GM1 gangliosidosis?
GM1 ganglioside
Which enzyme is deficient in GM1 gangliosidosis?
Beta-Galactosidase
Which breed of Bovine is affected by GM1 gangliosidosis?
Friesian
What is the storage product in GM2 gangliosidosis?
GM2 ganglioside
Which enzyme is deficient in GM2 gangliosidosis?
Beta-Hexosaminidase
What is the storage product in Globoid cell leukodystrophy?
Galactosylceramide
Which enzyme is deficient in Globoid cell leukodystrophy?
Galactosylceramidase
What is the storage product in alpha-Mannosidosis?
Mannose-containing oligosaccharide
Which enzyme is deficient in alpha-Mannosidosis?
Alpha-Mannosidase
What is the storage product in Beta-Mannosidosis?
Mannose-containing oligosaccharide
Which enzyme is deficient in Beta-Mannosidosis?
Beta-Mannosidase
Which breed of Caprine is affected by Beta-Mannosidosis?
Nubian
What is the storage product in Mucopolysaccharidosis (MPS)?
Different glycosaminoglycans
Which enzyme is deficient in MPS I?
Alpha-L-iduronidase
Which enzyme is deficient in MPS II?
Iduronate-2-sulfatase
Which enzyme is deficient in MPS III?
N-acetylglucosamine-6-sulfatase
Which enzyme is deficient in MPS VI?
Arylsulfatase-B
Which enzyme is deficient in MPS VII?
Beta-glucuronidase
What is the storage product in Ceroid-lipofuscinosis?
Subunit c of mitochondrial ATPase
What is generally defective in Ceroid-lipofuscinosis?
Prelysosomal defect?
Which enzyme is deficient in Sphingolipid activating proteins A and D deficiencies?
Palmitoyl protein thioesterase
What is the storage product in Niemann-Pick type C disease?
Primarily ganglioside in neurons
Which enzyme is deficient in Niemann-Pick type C disease?
Unknown
Which breed of Canine is affected by GM1 gangliosidosis?
English springer spaniel
Which breed of Feline is affected by GM1 gangliosidosis?
Siamese
Which breed of Ovine is affected by GM2 gangliosidosis?
Yorkshire
Which breed of Bovine is affected by a-Mannosidosis?
Angus
Which breed of Canine is affected by MPS I?
German Shepherd
Which breed of Feline is affected by MPS VI?
Domestic Shorthair
Which breed of Canine is affected by Ceroid-lipofuscinosis?
English Setter