AR + X-linked lysosomal storage diseases Flashcards
X-linked
deficient α-galactosidase →↑ ceramide trihexoside
Fabry disease
early childhood pain: damage to peripheral nerves associated with peripheral neuropathy (hands, feet)
abdominal pain: lipid accumulation in GI blood vessels → ischemia
renal failure
HTN
cardiomyopathy
angiokeratomas (painless papules, low ab/buttocks/groin)
Fabry disease
angiokeratomas painless papules, low ab/buttocks/groin)
renal failure
Fabry disease
most common lysosomal disorder
Gaucher disease
glucocerebrosidase deficiency→ ↑ glucoerebroside (lipid-like, builds up in macrophages, spleen, liver, kidneys, lungs, BM)
Gaucher disease
hepatosplenomegaly painful bony lesions anemia fatigue thrombocytopenia (due to large spleen) macrophages have cytoplasmic, lipid-laden blue fibrils
Gaucher disease
macrophages with “crumpled tissue paper” cytoplasm
Gaucher cells - Gaucher disease
sphingomyelinase deficiency →↑ sphingomyelin (lipid-like)
Niemann-Pick disease
HEPATOSPLENOMEGALY thrombocytopenia lot of CNS accumulation: ataxia dysarthria dysphagia worsening intellectual function "cherry red" spots on macula foam cells
Niemann-Pick disease
“cherry-red” spots on macula
Niemann-Pick disease: accumulation of substrate in cell layers of retina around the macula
OR tay sachs disease
foam cells (lipid-laden macrophages)
Niemann-Pick disease
small vacuoles → cyto looks foamy
hexosaminidase A →↑ GM2 ganglioside
tay sachs disease
progressive worsening of mental and physical abilities around 6 mo (for infantile type) death by 4 years less severe: onset later "cherry red" spot on macula NO HEPATOSPLENOMEGALY (not NPD)
tay sachs disease
galactocerebrosidase →↑galactocerbroside
Krabbe disease
affects myelin sheaths: peripheral neuropathy seizures optic atrophy weakness developmental delay onset: 3-6 mo death before 2 yo
Krabbe disease