Glycogen Storage Diseases And Lysosomal Storage Diseases, First Aid

Front 1

Von Gierke's disease

Deficient enzyme

Back 1

glucose-6-phosphatase

Front 2

Von Gierke's disease

Findings

Back 2

Type I glycogen storage disease

Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly

Front 3

Pompe's disease

Deficient enzyme

Back 3

Lysosomal alpha-1-4-glucosidase (acid maltase)

Front 4

Pompe's disease

Findings

Back 4

Type II glycogen storage disease

Cardiomegaly and systemic findings leading to early death

Pompe's trashes the Pump (heart, liver and muscle)

Front 5

Cori's disease

Deficient enzyme

Back 5

Debranching enzyme, alpha-1,6-glucosidase

Front 6

Cori's disease

Findings

Back 6

milder form of type I (Von Gierke's disease) with normal blood lactate levels

Gluconeogenesis is intact

Front 7

McArdle's disease

Deficient enzyme

Back 7

Skeletal muscle glycogen phosphorylase

Front 8

McArdle's disease

Findings

Back 8

increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise

McArdles: think MUSCLE

Front 9

Fabry's disease

Deficient enzyme

Back 9

Sphingolipidoses

alpha-galactosidase A

X-linked recessive!!!

Front 10

Fabry's disease

accumulated substrate

Back 10

ceramide trihexoside

X-linked recessive!!!

Front 11

Fabry's disease

Findings

Back 11

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

X-linked recessive!!!

Front 12

Gaucher's disease

Deficient enzyme

Back 12

beta-glucocerebrosidase!!

AR

Front 13

Gaucher's disease

Accumulated substrate

Back 13

Glucocerebroside

Front 14

Gaucher's disease

Findings

Back 14

AR!!

hepatosplenomegaly, aseptic necrosis of the femur, bone crises; Gaucher's cells (macrophages that look like crumpled paper)

Front 15

Niemann-Pick disease

Deficient enzyme

Back 15

Sphingomyelinase

Front 16

Niemann-Pick disease

Accumulated substrate

Back 16

Sphingomyelin

AR

Front 17

Niemann-Pick disease

Findings

Back 17

progressive neurodegeneration, hepatosplenomegaly, cherry-red-spot (on macula), foam cells

AR!

Front 18

Tay-Sachs disease

Deficient enzyme

Back 18

hexosaminidase

Front 19

Tay-Sachs disease

Accumulated substrate

Back 19

GM2 ganglioside

AR

Front 20

Tay-Sachs disease

Findings

Back 20

progressive neurodegeneration, developmental delay, cherry-red spot, lysosomes with onion skin!!

Front 21

Krabbe's disease

Deficient enzyme

Back 21

Galactocerebrosidase

AR

Front 22

Krabbe's disease

Accumulated substrate

Back 22

galactocerebroside

Front 23

Krabbe's disease

Findings

Back 23

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Front 24

Metachromic leukodystrophy

Deficient enzyme

Back 24

Arylsulfatase A

Front 25

Metachromic leukodystrophy

Accumulated substrate

Back 25

Cerebroside sulfate

Front 26

Metachromic leukodystrophy

Findings

Back 26

Central and peripheral demyelination with ataxia, dementia

Front 27

Mucopolysaccharidoses

Back 27

Hurler's syndrome and Hunter's syndrome

Front 28

Hurler's syndrome

Deficient enzyme

Back 28

alpha-L-iduronidase

Front 29

Hurler's syndrome

accumulated substrate

Back 29

heparan sulfate, dermatan sulfate

Front 30

Hurler's syndrome

Findings

Back 30

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Front 31

Hunter's syndrome

Deficient enzyme

Back 31

Mucopolysaccharidoses

iduronate sulfatase

Front 32

Hunter's syndrome

Accumulated substrate

Back 32

heparan sulfate, dermatan sulfate

Front 33

Hunter's syndrome

Findings

Back 33

XR!!!

mild-Hurler's (developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly) with aggressive behavior, NO corneal clouding