Foundations Diseases Flashcards
I cell disease defect
Deficiency in mannose phosphorylation
No m-6-p to target lysosomal proteins –> secretion out of the cell instead of into lysosomes
I cell disease features
Coarse facial features Clouded corneas Restricted joint movement High plasma levels of lysosomal enzymes Death by age 8
Hunter syndrome
Mucopolysaccharidosis - XR
Hurler syndrome
Mucopolysaccharidosis - AR
What enzyme is deficient in Hurler syndrome
alpha-L-iduronidase
What are the symptoms of Hurler syndrome
Developmental delay Gargoylism Airway obstruction Corneal clouding Hepatosplenomegaly
What enzyme is deficient in Hunter syndrome
Iduronate sulfatase
What are the symptoms of Hunter syndrome
Mild Hurler syndrome, with aggressive behavior
No corneal clouding
What are the differences between Hurler and Hunter syndrome?
Hurler is AR and has corneal clouding
Hunter is XR and has aggressive behavior, no corneal clouding
What enzyme is deficient in fabry disease?
alpha-galactosidase A
What accumulates in fabry disease
Ceramide trihexosidase
Findings in fabry disease
Peripheral neuropathy (acroparesthesia), angiokeratomas, cardiovascular/renal disease XR
What enzyme is deficient in gaucher disease
beta-glucosidase (glucocerebrosidase)
What accumulates in gaucher disease
Glucocerebroside
Most common sphingolipiosis
Gaucher
Findings in gaucher disease
HSM, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells
AR
What is a gaucher cell
Lipid-laden macrophages that look like crumpled tissue paper, found in gaucher disease
Treatment of gaucher disease
Recombinant glucocerebrosidase
what enzyme is deficient in niemann-pick disease
sphingomyelinase
what accumulates in niemann-pick disease
sphingomyelin
findings in niemann pick disease
progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
AR
what enzyme is deficient in tay sachs
Hexosaminidase A
what accumulates in tay sachs
GM2 ganglioside
findings in tay sachs
progressive neurodegeneration, developmental delay, cherry red macula spot, lysosomes with onion skin
AR
what lysosomal storage diseases have cherry red spot on macula
tay sachs and niemann pick
what is a major difference b/w tay sachs and niemann pick
tay sachs has no hepatosplenomegaly
niemann pick has
what is deficient in krabbe disease
galactocerebrosidase
what accumulates in krabbe disease
galactocerebroside and psychosine
findings in krabbe disease
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
AR
what is deficient in metachromic leukodystrophy
arylsulfatase A
what accumulates in metachromatic leukodystrophy
cerebroside sulfate
findings in metachromatic leukodystrophy
central and peripheral demyelination with ataxia, dementia
AR
