Lysosomal storage disease Flashcards
Fabry’s
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
a-galactosidase; ceramide trihexoside
Gaucher’s
hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages that look like crumpled tissue paper)
glucocerebrosidase; glucocerebroside
Niemann-Pick
progressive neurodegeneration, hepatospelnomegaly, cherry red spot on macula, foam cells
spingomyelinase; sphingomyelin
Tay-Sachs
progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly
hexosaminidase A; GM2 ganglioside
Krabbe’s disease
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
galactocerebrosidase, galacetocerebroside
metachromatic leukodystrophy
central and peripheral demyelination with ataxia, demention
arylsulfatase A; cerebroside sulfate
Hurler’s syndrome
developmental delay, gargoylism
alpha-L-iduronidase; heparan sulfate, dermatan sulfate
Hunter’s syndrome
mild Hurler’s + aggressive behavior, no corneal clouding
iduronate sulfatase; heparan sulfate, dermatan sulfate
“Hunters see clearly (no corneal clouding) and aim for the X (X-linked recessive)
Von Gierke’s disease (Type 1)
glucose-6-phosphatase
severe fasting hypoglycemia
INCREASED glycogen in liver
INCREASED blood lactate
hepatomegaly
Pompe’s disease
lysosomal alpha-1,4-glucosidase
cardiomegaly
systemic findings leading to early death
increased glycogen in lysosomes
“Pompe traces the Pump (heart, liver, and muscle)
Cori’s disease
debranching enzyme (alpha-1,6-glucosidase)
milder form of type 1 with normal blood lactate levels
note: gluconeogenesis is intact
McArdle’s disease
skeletal muscle glycogen phosphorylase
increased glycogen in muscle (but can’t break it down)
muscle gramps
myoglobinuria with strenuous exercise
Osler-Weber-Rendu syndrome
teleangiectasia
recurrent epistaxis
skin discolorations
AVMs
Neurofibromatosis type 1
cafe-au-lait spots neural tumors Lisch nodules (pigmented irus hamartomas) skeletal disorders (ie scoliosis) optic pathway gliomas
Neurofibromatosis type 2
biolateral acoustic schwannomas
juvenile cataracts
tuberous sclerosis
facial leasions (adenoma sebaceum) ash leaf spots cortical and retinal hamartomas seizures mental retardation renal cysts renal angiomyolipomas cardiac rhabdomyomas increased incidence of astrocytomas
von Hippel-Lindau disease
hemangioblasomas of retina/cerebellum/medulla
bilateral renal cell carcinomas and other tumors
