Flashcards in Lysosomal Storage Diseases Deck (19):
All lysosomal diseases are autosomal recessive except which two?
What are they?
Both X linked.
Tay Sachs Disease is caused by a deficiency in what enzyme and a build up of what precursor?
Mutation in Hexosaminidase A leading to accumulation of GM2 gangliosides in neurons that baloon and die.
What occurs in the infantile stage of Tay Sachs Disease?
Loss of motor skills
Cherry Red spot
Severe psychomotor damage
Death via bronchopneumonia at age 4.
What occurs in the juvenile onset form of Tay Sachs Disease
Onset between 2 and 10 yrs
Dimentia progressing to death by age 10-15.
What occurs in the adult onset form of Tay Sachs Disease?
Clumsiness in childhood and motor weakness in adolescence.
What population is especially at risk for Tay Sachs disease?
What enzyme is deficient in Gauchers disease and what precursor is accumulated in the lysosomes?
Deficiency in Beta-Glucosidase resulting in an accumulation of glycosylceramide in the monocyte-macrophage system.
This is the most common lipid storage disease.
The most common form of Gauchers Disease, displaying hepatosplenomegally, erlenmeyer flask deformities, and bone pain most prevelant amongs Ashkenazi Jews
Gauchers Type I
Which type of Gauchers disease is rare and characterized by panethnic rapid neurodegenerative course leading to death in the first two years of life?
Which type of Gauchers disease affects juvenile swedes most commonly causin neurological invovlement in addition to the common hepatosplenomegally and bone involvement?
Chitotriosidase, a macrophage enzyme is a biomarker for what disease?
Biomarker for Gauchers disease.
Niemann- Pick disease is due to a defect in what enzyme and an accumulation of what?
Deficiency in sphingomyelinase resulting in lysosomal accumulation of sphingomyelin in phagocytes and neurons.
This type of Niemann-Pick disease is fatal in infancy leading to psychomotor retardation, retinal cherry spot, hepatosplenomegally and lymphadenopathy at 6 months of life.
Ganglion cells in brain and spinal cord are foamy.
This type of Nieman Pick disese has a later more variable onset with hepatosplenomegaly and eventual cirhosis with cor pulmone
This type if Nieman Pick disease has an abnormal NPC-1 gene involved with and causing the build up of cholesterol.
Nieman Pick disease type C.
Mucopolysaccharidoses is a deficiency in what enzymes and an accumulation of what precursor?
Deficiency in degradation of Glycosaminoglycans eading to there buildup.
Valvular lesions and coronary artery narrowing are a common feature of what disorder?
Founding of GAGs
Hurlers Disease is caused b a deficiency of what enzyme and a build up of what product?
Deficiency in alpha-L-iduronidase resulting in accumulation of dermatan sulfate and heparan sulfate.