Flashcards in Lysosomal Storage Diseases Deck (40):
Lysosomal Storage Diseases description?
Each is caused by a deficiency in one of the many lysosomal enzymes. Results in an accumulation of abnormal metabolic products
What are 6 the sphingolipidoses?
1) Fabry Disease 2) Gaucher Disease 3) Niemann-Pick Disease 4) Tay Sachs Disease 5) Krabbe Disease 6) Metachromatic leukodystrophy
What enzyme is deficient in Fabry disease?
What is the accumulated substrate in Fabry disease?
What are the findings in Fabry disease?
Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease. Red macules or papules on abdomen or scrotum
What is the inheritance of Fabry disease?
What enzyme is deficient in Gaucher Disease?
What is the accumulated substrate in Gaucher Disease?
Which is the most common lysosomal storage disease?
What are the findings in Gaucher Disease?
Hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells
What are Gaucher cells?
lipid-laden macrophages resembling crumpled tissue paper
What is the treatment of Gaucher disease?
What is the inheritance of Gaucher disease?
What enzyme is deficient in Niemann-Pick Disease?
What substrate is accumulated in Niemann-Pick Disease?
What are the findings in Niemann-Pick Disease?
Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells (lipid-laden macrophages)
What is the inheritance of Niemann-Pick Disease?
What enzyme is deficient in Tay-Sachs disease?
What is the accumulated susbstrate in Tay-Sachs?
What are the findings in Tay-Sachs?
Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly
What clinical symptom differentiates Niemann-Pick from Tay-Sachs?
Hepatosplenomegaly is present in Niemann-Pick but NOT Tay-Sachs
What enzyme is deficient in Krabbe disease?
What is the accumulated substrate in Krabbe disease?
What are the clinical findings in Krabbe disease?
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
What is the inheritance of Krabbe Disease?
What enzyme is deficient in Metachromatic Leukodystrophy?
What is the accumulated substrate in Metachromatic Leukoystrophy?
What are the clinical findings in metachromatic leukodystrophy?
Central and peripheral demyelination with ataxia, dementia
What is the inheritance of Metachromatic leukodystrophy?
What are the (2) Mucopolysaccharidoses?
Hurler syndrome & Hunter Syndrome
What enzyme is deficient Hurler Syndrome?
What is the accumulated substrate in Hurler Syndrome?
Heparan Sulfate, Dermatan Sulfate
What are the clinical findings in Hurler Syndrome?
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
What enzyme is deficient in Hunter Syndrome?
What are the accumulated substrates in Hurler syndrome?
Heparan sulfate, dermatan sulfate
What are the clinical findings in Hunter Syndrome?
Mild Hurler + aggresive behavior; no corneal clouding
What is the inheritance of Hurler Syndrome?
What is the inheritance of Hunter Syndrome?
Mneumonic for this shit
NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGer (SPHINGOMYELINASE).
tay-saX lacks heXosamindase
HUNTERS see clearly (no corneal clouding) and aggressively aim for the X (X-linked).