Dirty Medicine mnemonics exam 2023/47
Questions 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 - - Von Gierke
Deficiency: glucose-6-phosphatase
Accumulation: G6P
Findings: Fat, muscle wasting, hepatomegaly, hypoglycemia
-CORAL reef w/ lots of branches - - Cori disease
Deficiency: Debranching enzyme aka α-1,6-glucosidase
Accumulation:
Findings: Same as von Gierke but abnormal glycogen structure
-McArdle's and Her's diseases deficiency - - Deficiency: glycogen phosphorylase
Accumulation: glycogen
-ANDERSON Cooper gets STRAIGHT to the point - - Lack of branching enzyme
-BLASTed by pain - - osteoblastoma (doesn't respond to NSAIDs)
-OO that feels better - - osteoid osteoma (relieved by NSAIDs)
-Osteo-suck-oma on a starBURST - - osteosarcoma has a sunburst appearance on XR
Questions 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 - - Von Gierke
Deficiency: glucose-6-phosphatase
Accumulation: G6P
Findings: Fat, muscle wasting, hepatomegaly, hypoglycemia
-CORAL reef w/ lots of branches - - Cori disease
Deficiency: Debranching enzyme aka α-1,6-glucosidase
Accumulation:
Findings: Same as von Gierke but abnormal glycogen structure
-McArdle's and Her's diseases deficiency - - Deficiency: glycogen phosphorylase
Accumulation: glycogen
-ANDERSON Cooper gets STRAIGHT to the point - - Lack of branching enzyme
-BLASTed by pain - - osteoblastoma (doesn't respond to NSAIDs)
-OO that feels better - - osteoid osteoma (relieved by NSAIDs)
-Osteo-suck-oma on a starBURST - - osteosarcoma has a sunburst appearance on XR
