lysosomal storage diseases Flashcards
Tay sachs disease inheritance
AR
which enzyme is deficient in tay sachs?
HeXosaminidase A
what builds up in tay sachs disease?
GM2
presentation of tay sachs disease?
hyeracusis, hyperreflexia, cherry red spot, progressive neurodegeneration, lysosomes with onion skin
does tay sachs disease have hepatomegaly?
NOOO
inheritance of fabrys disease?
X linked recessive
which enzyme is deficient in fabrys disease?
alpha galactosidase A
what builds up in fabrys disease?
globotriaosylceramine (ceramide trihexoside)
presentation of fabrys disease?
episodic neuropathy, angiokeratomas, hypohidrosis
renal and heart disease later on
Gauchers disease inheritance?
AR
what is deficient in Gauchers disease?
glucocerebrosidase
what builds up in Gauchers disease?
glucocerebroside
presentation of gauchers disaese?
hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crisis, gaucher cells
Neimann-pick disease inheritance?
AR
what is deficient in Neimann-pick disease?
sphingomyelinase
what builds up in Neimann-pick disease?
sphingomyelin
presentation of Neimann-pick disease?
Hepatosplenomegaly, cherry red spot, neurodegeneration, foam cells
Inheritance of metachromatic leukodystrophy?
AR
What is deficient in metachromatic leukodystrophy?
arylsulfatase A
what builds up in metachromatic leukodystrophy?
sulfatides
presentation of metachromatic leukodystrophy?
central and peripheral demyelination with ataxia and dementia
inheritance of krabbe disease?
AR
what is deficient in krabbe disease?
galactocerebrosidase
what builds up in krabbe disease??
galactocerebroside
presentation of krabbe disease?
peripheral neuropathy, destruction of oligodendrocytes, optic atrophy, globoid cells
Which two lysosomal storage diseases have a cherry red spot?
Tay sachs and neimann-pick disease
which lysosomal storage disease has crinkled tissue paper cells?
gauchers
which lysosomal storage disease is X linked recessive?
Fabrys
which lysosomal storage disease has globoid cells?
Krabbe disease
what are the two mucopolysaccharidoses?
Hunters and Hurlers
which of the mucopolysaccharidoses is X linked recessive?
Hunters
which of the mucopolysaccharidoses is autosomal recessive?
Hurlers
which of the mucopolysaccharidoses is associated with aggression?
Hunters
which of the mucopolysaccharidoses is associated with corneal clouding?
Hurlers
presentation of hurlers?
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
presentation of hunters?
mild hurlers + aggression, WITHOUT corneal clouding
does hunters have corneal clouding?
no
what builds up in the mucopolysaccharidoses?
heparan sulfate and dermatan sulfate
