Dirty Medicine mnemonics exam 2023 with complete solution

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