Lysosomal storage disease Flashcards
HexosaminidaseA deficiency
Tay-Sachs disease
alpha galactosidase A deficiency
Fabry
Fabry is the X-rated alpha bitch
XLR
Arylsulfatase A deficiency
Metachromatic leukodystrophy
clumsy (ataxia), crazy (dementia). ARYA with her Sulfur, Metal brain (cerebrosulfate –> Metachromatic)
Galactocerebrosidase deficiency
Krabbe
My galactic crab!
Glucocerebrosidase (β-glucosidase)
Gaucher
Sphingomyelinase deficiency
Neimann Pick
α-L-iduronidase deficiency
Hurler syndrome
Hurler is a Loser Idiot.
Iduronate-2-sulfatase deficiency
Hunter SYNDROME
Hunter is an Idiot 2
↑ GM2 ganglioside accumulation
Tay-Sachs
↑ Ceramidetrihexoside (globotriaosylce-ramide) accumulation
Fabry
↑ cerebroside sulfate accumulation
Metachromatic leukodystrophy
Galactocerebroside, psychosine accumulation
Krabbe
My psycho galactic crab!
Glucocerebroside accumulation
Gaucher
Sweet, Smart Cowboy
Gluco-Cerebro
Gaucho = cowboy
Sphingomyelin accumulation
Neimann Pick
Heparan sulfate, dermatan sulfate accumulation
Hurler and Hunter Syndrome
All Lysosomal diseases except Fabry and Hunter syndrome are what time of inheritance?
AR
Fabry & Hunter Syndrome are XR
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
Llamelar zebra bodies
Hurler Syndrome
Mild Hurler (Developmental delay, gargoylism, airway obstruction, Hepatomegaly)
+
aggressive behavior
NO corneal clouding
Hunter Syndrome
The Hunter is aggresive and can see the X clearly
(XLR)
Progressive neurodegeneration, hepatosplenomegaly,
foam cells (lipid-laden macrophages)
Zebra bodies (Llamelar inside lysosomes)
“cherry-red” spot on macula
Neimann Pick
Don’t pick a foamy cherry with your sphinger
Most common. Hepatosplenomegaly pancytopenia osteoporosis avascular necrosis of femur bone pain/crisis
Lipid-laden macrophages resembling crumpled tissue paper
Gaucher
The sweet and smart, cowboy will break your bones and leave you crying like a pancy.
“osteoporosis, avascular necrosis of femur, bone pain. pancytopenia”
“Crumpled tissue - fatty Mq”
Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy (loss of vision).
globoid cells
Krabbe
My galactic crab can’t feel a thing, see a thing, move a thing his globoid shell.
Central and peripheral demyelination with
ataxia
dementia/ memory deficits
developmental delay
Metachromatic Leukodystrophy
Early symptoms:
Triad of episodic peripheral neuropathy called
Dysesthesia (painful, itchy, burning, or paresthesias)
Hypohidrosis
Angiokeratomas
Late symptoms:
Cardiomyopathy
Nephropathy (renal failure)
Fabry
Fabry is the alpha girl who barely breaks a sweat trying to Hex you with blood spots. She will eventually break your heart and make you pee yourself without feeling a thing
(Cerebrotrihexamine)
Progressive neurodegeneration, developmental delay, hyperreflexia, hyperacusis, “cherry-red” spot onmacula , lysosomes with onion skin, no hepatosplenomegaly
Tay-Sachs
“GiMme 2 stupid reasons to sTAY away from my JUMPY, RED, ONION”
Hyperacusis: noises sound louder –> startled by noise
Jumpy: hyperreflexia and Hyperacusis
Coarse facial features Corneal clouding Gingival hyperplasia Claw hand deformity Kyphoscoliosis
I-cell disease
↓ N-acetylglucosaminyl-1-phosphotransferase →
↑ abnormal lysosomal substances
I-cell disease
Progressive deterioration of vision, hearing, and motor function
Dementia
Adrenal insufficiency
Adrenoleukodystrophy
↓ ATP-binding cassette transporter → ↑ deposits of very-long-chain fatty acids
Adrenoleukodystrophy
