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Flashcards in Lysosomal Storage Diseases Deck (8)
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1
Q

Gaucher

A
  • AR
  • deficient enzyme: beta-glucocerebrosidase
  • accumulated: glucocerebroside
  • signs/sxs: gaucher cells (macrophages that look like crumpled tissue paper), hepatosplenomegaly, pancytopenia, severe bone and joint pain
2
Q

Hurler

A
  • AR
  • deficient enzyme: alpha-L-iduronidase
  • accumulated: dermatan and heparan sulfate
  • signs/sxs: gargoylism, corneal clouding, hepatosplenomegaly, developmental delay
  • “L” in hurLer for alpha-L-iduronidase
  • don’t need to see as well if you are hurling something than when hunting for something (corneal clouding, none in Hunter)
3
Q

Hunter

A
  • X-linked (super sexist, but most times I think of men as hunters)
  • deficient enzyme: iduronate sulfatase
  • accumulated: dermatan and heparan sulfate (same as Hurler)
  • signs/sxs: same as Hurler except milder and no corneal clouding
  • Hunter needs to see clearly
4
Q

Niemann-Pick

A
  • AR
  • deficient enzyme: sphingomyelinase
  • accumulated: sphingomyelin
  • signs/sxs: hepatosplenomegaly, cherry-red spot in macula, foam cells, progressive neurodegeneration
  • “after PICKing out the perfect dress, she was pissed to find out that her delivery box from Niemann-Marcus was just full of foam (cells) :( … she then got so upset that she drank herself into liver failure (hepatosplenomegaly) and then had a seizure”
5
Q

Tay Sachs

A
  • AR
  • deficient enzyme: beta-hexosaminidase A (Tay “Sixth” –> hexagon has six sides)
  • accumulated: GM2 ganglioside (a poor M2 would never be able to shop at Sachs Fifth Avenue)
  • signs/sxs: cherry-red spot in macula, progressive neurodegeneration, no hepatosplenomegaly
  • “my girl Tay instead decided to order her dress from Sachs Fifth Avenue and was relieved when there was no foam, but she was so excited that she had a seizure. She didn’t feel the need to drink, though.”
6
Q

Krabbe

A
  • AR
  • deficient enzyme: galactocerebrosidase (“did you hear about the Crab they sent to space? It was galactic!”)
  • accumulated: galatosylsphingosine and galactocerebroside (such a galactic crab!)
  • signs/sxs: progressive neurodegeneration, optic atrophy (“the galactic sun blinded the crab”)
7
Q

Metachromatic Leukodystrophy

A
  • AR
  • deficient enzyme: arylsulfatase A
  • accumulated: cerebroside sulfate
  • signs/sxs: muscle wasting, dementia, ataxia
8
Q

Fabry Disease

A
  • X-linked
  • deficiency: alpha-galactosidase
  • accumulated: ceramide trihexoside (“I just opened a new store called “Ceramics and Fabrics!”)
  • signs/sxs: angiokeratomas (punctuate, dark red, non-blanching macules and papules that classically occur between the umbilicus and the knees), cardiac and renal involvement, painful neuropathy (acroparesthesia: episodic, often debilitating, burning neuropathic pain in the extremities)
  • without enzyme replacement therapy, progressive renal insufficiency leading to renal failure and death may occur

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