Mnemonics on Lysosomal disorders
First of all when there's two confusing points "focus on one of
them and in the exam you'll remember the other by being not what
the first is" have to say that I learned this tip from Goljan
Now let's get started
--All AR except Fabry and Hunter XR : so the Hunter is pointing
his gun to the X target. Hurler who's like Hunter [is
Mucopolysaccharidosis] but because of corneal clouding he can't
hunt well. By the way both Hunter and Hurler accumulate Heparan
sulfate [dermatan sulfate is easy to remember once you get the
first]. All you need to really memorize then is Hurler is alfa
iduronidase and you'll remember the other by exclusion.
--No man picks is nose with hi- Sphinger "Nieman Pick -
Sphingomyelinase".
--Gaucher-Glucocerebrosidase-Glucocerebroside 3G "have u Got ur
iPhone 3G!"
--Cherry-Red spot is a hyphenated term and so as Nieman-Pick and
Tay-Sach.
--Ashkenazi Jews have Tay-Sachs Nieman-Pick and Gaucher
common.
--Angiokeratoma is a Fabric of vessels and Galaxy of skin spots:
which means that Angiokeratoma is seen in Fabry disease in which
there's Galactosidase deficiency and epidermal keratosis.
--Krabbe's disease: just remeber Globoid CellsMetachormatic
Leukodystrophy
Just remember that the name came from metachromasia (Yellow
brown color shift of the sulfatides crystals with toluidine
blue).Arysulfatase A deficiency.TAY SACHS DISEASEThere was a boy
named TAY who couldnt see well because of cherry red spots on his
macula. One night, despite having bad vision, this RETARDED kid
took his GM2 out at night and crashed into a witch. Before dying
the witch placed a HEX on him.
I think of this story and analyze it this way=
"boy- i think small boy- he can not be fat-- so no
hepatosplenomagaly"named TAY" - Tay sachs disease"cant see well"
b/c of the cherry red macula spot""drove at night time"-- also
helps me think -- vision, cherry red spot"took his GM2 car"- GM-
stands for general motors : In our case its
"gm2"ganglioside"retarded"- this one is a bit confusing bc this is
not mental retardation- but think progressive neurodegeneration and
developmental delay-- so BRAIN ISSUES"placed a HEX on him" A hex in
normal language is a curse.. However to us, this means
"hexosaminidase A" defeciency.About the HEX the witch placed on
Tay...
His skin would turn into ONIONS every time he told a lie...
Lysosomes with onion skinsFabry's mnemonic
Fabry drinks a cup (ceramic - ceramide trihexoside) of milk
(lactose - galactosidase deficiency) then he got allergic reactions
such as skin lesion (angiokeratomas), cardiovascular and renal
complications.
For Gaucher - I think of Ocscar the Grouch - (Gauch) in the
trash with crumpled up paper (cytoplasm)
And from a friend - better Foam in after you Pick you nose
(Neiman Pick foam cells)...Men are evil hunters who always
fabricate lies.
Men- XRHunters diseaseFabry's DiseaseNeiman Picks his nose with
his "SPHING"er ( finger...so defeciency of sphingomylinase) Because
he picks his Nose, he eats his boggers ( nose crap) and gets fatter
( Hepatosplenomegaly- fat stomach)
Using this mneumonic + the other one someone mentioned above (
hyphenated words= Cherry-red macula spot) + the order listed in
FA.
FA order:-1- Gauchers 2- Neiman -Pick 3- Tay-sachs
1 and 2- have hepatosplenomegaly in common
2 and 3- Are both hyphenated , i.e- Cherry-Red macula, in
common. ( from other poster's mneumonic)
So, if u see patient has BOTH HEPATOSPLENOMEGALY AND CHERRY-RED
MACULA, it has to be the one in the middle- Neiman-Pick.(Neiman
likes picking things-- just like he likes picking his nose- so, he
picks BOTH!! --CHERRY red macula AND HSmegaly!)
