Lysosomal Storage Disease Flashcards
What are the disease that can be caused by changes with sphingolipids?
Fabry’s disease (deficiency of alfa-galactosidase A)
Gaucher’s disease (deficiency of glucocerebrosidade)
Niemann Pick disease (deficiency of acid sphingomyelinase)
Krabbe’s disease (deficiency galactocerebrosidase)
Tay-Sachs disease (deficiency of hexosaminidase A)
Metachromatic Leukodystrophy (deficiency of arylsulfatase A)
What are the diseases that can be caused by changes in glycosaminoglycans?
Hurler’s syndrome (dificiency of a alfa-L-iduronidase)
Hurter’s syndrome (deficiency of iduronate 2-sulfatase)
What is the disease that can be caused by alfa galactosidase A deficiency?
Fabri’s disease
What is the disease that can be caused by glucocerebrosidase deficiency?
Gaucher’s disease
What is the disease that can be caused by acid sphingomyelinase deficiency?
Niemann-Pick disease
What is the disease that can be caused by galactocerebrosidase deficiency?
Krabber’s disease
What is the disease that can be caused by hexosaminidase A deficiency?
Tay-Sachs disease
What is the disease that can be caused by arylsulfatase A deficiency?
Metachromatic leukodystrophy
What is the disease that can be caused by alfa-L-iduronidase deficiency?
Hurler’s syndrome
What is the disease that can be caused by iduronate 2-sulfatase deficiency?
Hunter’s syndrome
What are the classic symptoms that can be seen in Fabry’s disease?
Child with pain in hands/feet
Lack of sweat
Skin findings
Acummulation of ceramide trihexoside!!!
What are the classic symptoms that can be seen in Gaucher’s disease?
Child of Ashkenazi Jewish descent
Splenomegaly on exam
Anemia
Bruising (low plaquets)
Joint pain/fractures
Accumulation of glucocerebroside!!
What are the classic symptoms that can be seen in Niemann-Pick disease?
Previously well, healthy child
Weakness, loss of motor skills
Enlarged liver or spleen on physical exam
Cherry red spot
Accumulation of sphingomyelin!!!
What are the classic symptoms that can be seen in Krabbe’s disease?
Only neuro symptoms -> progressive weakness, development delay, floppy limbs, loss of head control, absent reflexes, optic atrophy, often fever without infection, usually death < 2 yrs
Globoid cell leukodystrophy
What are the classic symptoms that can be seen in Tay-Sachs disease?
3-6 months old infant
Ashkenazi Jewish descendent
Development delay
Exaggerated startle response
Cherry red spot
NO hepatosplenomegaly
Lysosomes with onion skinning
Accumulation of GM2 ganglioside