Dirty Medicine mnemonics exam 2023 with complete
solution
My FABRite activity is making a CERAMIc galaxy, sorry to seep HARPing on it
Fabry disease
Deficiency: α-galactosidase A
Accumulation: ceramide
Findings: hypohidrosis, angiokeratomas, renal failure, peripheral neuropathy
OMGauch he's such a BRO
Gaucher disease
Deficiency: glucocerebrosidase
Accumulation: glucocerebroside
Findings: osteoporosis, most common, gross femoral head (AVN)
A GANG of SIX SMALL Jews
Tay-Sachs disease
Deficiency: hexosaminidase
Accumulation: GM2-ganglioside
Findings: NO HSM, onion skin lysosomes, cherry red macula
PICK your nose with a BIG FOAMY SPHINGer
Niemann-Pick Disease
Deficiency: sphingomyelinase
Accumulation: sphingomyelin
Findings: cherry red macula, foam cells or lipid laden macrophages, HSM
The GLOB of GOO-ey KRABBE meat is out of this galaxy
Krabbe disease
Deficiency: Galactocerebrosidase
Accumulation: Galactocerebroside
Findings: Globoid cells, oligodendrocyte destruction, optic atrophy
Deficiency in Hunter syndrome, inheritance and unique finding
iduronate-2-sulfatase, X-linked, behavioral aggression
Deficiency in Hurler syndrome
alpha-L-iduronidase
METApod is ARYL BROken Pokemon
Metachromatic leukodystrophy
Deficiency: arylsulfatase A
Accumulation: Cerebroside sulfate
Findings: central and peripheral demyelination, ataxia, dementia
Rate limiting enzyme in glycogenesis
glycogen synthase
rate limiting enzyme in glycogenolysis
glycogen phosphorylase
three things that promote glycogenolysis
glucagon, epinephrine, cAMP
von GEEK disease
solution
My FABRite activity is making a CERAMIc galaxy, sorry to seep HARPing on it
Fabry disease
Deficiency: α-galactosidase A
Accumulation: ceramide
Findings: hypohidrosis, angiokeratomas, renal failure, peripheral neuropathy
OMGauch he's such a BRO
Gaucher disease
Deficiency: glucocerebrosidase
Accumulation: glucocerebroside
Findings: osteoporosis, most common, gross femoral head (AVN)
A GANG of SIX SMALL Jews
Tay-Sachs disease
Deficiency: hexosaminidase
Accumulation: GM2-ganglioside
Findings: NO HSM, onion skin lysosomes, cherry red macula
PICK your nose with a BIG FOAMY SPHINGer
Niemann-Pick Disease
Deficiency: sphingomyelinase
Accumulation: sphingomyelin
Findings: cherry red macula, foam cells or lipid laden macrophages, HSM
The GLOB of GOO-ey KRABBE meat is out of this galaxy
Krabbe disease
Deficiency: Galactocerebrosidase
Accumulation: Galactocerebroside
Findings: Globoid cells, oligodendrocyte destruction, optic atrophy
Deficiency in Hunter syndrome, inheritance and unique finding
iduronate-2-sulfatase, X-linked, behavioral aggression
Deficiency in Hurler syndrome
alpha-L-iduronidase
METApod is ARYL BROken Pokemon
Metachromatic leukodystrophy
Deficiency: arylsulfatase A
Accumulation: Cerebroside sulfate
Findings: central and peripheral demyelination, ataxia, dementia
Rate limiting enzyme in glycogenesis
glycogen synthase
rate limiting enzyme in glycogenolysis
glycogen phosphorylase
three things that promote glycogenolysis
glucagon, epinephrine, cAMP
von GEEK disease
