Title: Physeo Anki Decks / 04 - Biochemistry / 05 - Metabolism / Section 19.2 - Fabry Disease

Q: Fabry disease presents with progressive [organ failure]
A: renal failure
Extra: Out of order glass station = Progressive renal failure

Q: [Lysosomal storage disease] clinically represents with hypohidrosis
A: Fabry disease
Extra: Temperature sign is 120 degrees, but NOBODY IS SWEATING = Hypohidrosis

Q: Why is [condition] unique from the other lysosomal storage disorders?
[inheritance]
A: Fabry disease; X-linked recessive disorder
Extra: X-shaped lug-nut remover = X-linked recessive
All other lysosomal storage diseases are autosomal recessive

Q: [Lysosomal storage disease] is caused by a deficiency in [enzyme]
A: Fabry disease; α-galactosidase A
Extra: Spilled gallon of gas on the sidewalk = α-galactosidase deficiency

Q: In [lysosomal storage disease] the accumulated substrate is [...]
A: Fabry disease; ceramide trihexoside
Extra: Three ceramic vases = Accumulated substrate is ceramide trihexoside

Q: Clinical features of Fabry Disease include:
1.) Palm and sole [...]
2.) Hypohidrosis
3.) Renal and CV failure in adulthood
4.) Angiokeratoma
A: neuropathy
Extra: Knitting fabric that resemles nerves = Peripheral neuropathy

Q: Clinical features of Fabry Disease include:
1.) Palm and sole neuropathy
2.) Hypohidrosis
3.) Renal and [system] failure in adulthood
4.) Angiokeratoma
A: cardiovascular
Extra: Car = Cardiovascular disease

Q: Clinical features of Fabry Disease include:
1.) Palm and sole neuropathy
2.) Hypohidrosis
3.) Renal and cardiovascular failure in adulthood
4.) [characteristic rash]
A: Angiokeratoma
Extra: Rust spots on car that resemble rash = Angiokeratoma rash