Genetic/storage Diseases

Front 1

Fabry's Disease

Back 1

Def. of alpha-galactosidase A (accumulate ceramide trihexose)

X-linked recessive; peripheral neuropathy of hands/feet, angiokeratomas (purplish nodules all over body)

Front 2

Gaucher's Disease

Back 2

Def. of Beta-Glucocerebrosidase (accumulate glucocerebroside)

Aut recessive; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cell (distended, filled with PAS+ fibrillary substances)

Front 3

Niemann-Pick Disease

Back 3

Def. of Sphingomyelinase (accumulate sphingomyelin)

AR; progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula

Front 4

Tay-Sachs Disease

Back 4

Def. of Hexoamanidase A (acccumulate GM2 Ganglioside)

AR; Progressive neurodegeneration, developmental delay, cherry-red spot on macula

Front 5

Krabbe's Disease

Back 5

Def. of Beta-galactosidase (accumulate galactocerebroside)

AR; peripheral neuropathy, developmental delay, optic atrophy

Front 6

Hurler's Syndrome

Back 6

Def. of alpha-L-iduronidase (accumulate heparan and dermatan sulfate)

AR; developmental delay, gargoylism, airway obstruction, corneal clouding

Front 7

Hunter's Syndrome

Back 7

Def. of iduronate sulfatase (accumulate heparan and dermatan sulfate)

X-linked recessive; Mild form of Hurler's +aggresive behavior and no corneal clouding

Front 8

Von Gierke's Disease

Back 8

Glycogen storage disease type I- def. of Glucose-6-Phosphatase

Liver becomes a "muscle" b/c it can't release glycogen from glycogenlysis-- severe fasting hypoglycemia (present with seizures w/in 1st year, growth retardation)

Front 9

Pompe's Disease

Back 9

Def. of lysosomal alpha-1,4-glucosidase deficiency

Cardiomegaly and systemic findings- muscle weakness, neurologic impairement

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

Front 10

Cori's Disease

Back 10

deficiency of debranching enzyme of glycogenlysis (alpha-1,6-glucosidase)

Mild hypoglycemia, hepatomegaly

Front 11

McArdle's Disease

Back 11

Skeletal muscle glycogen phosphorylase deficiency-- increased glycogen in muscle but can't break it down-- painful cramps, myoglobinuria upon strenous excercise

*McArdle's --> Muscle

Front 12

Type I Hypercholesterolemia

Back 12

Deficiency of lipoprotein lipase (or altered ApoCII- imp for activation of Lipoprotein Lipase)

Increased Chylomicrons, Blood Triglycerides

Front 13

Type IIa Hypercholesterolemia

Back 13

Deficiency of LDL Receptors

Increased LDL, Cholesterol

Front 14

Type IIb Hypercholesterolemia

Back 14

Increased hepatic VLDL Synthesis

Increased LDL, VLDL (TG's and cholesterol in blood)

Front 15

Wiskott-Aldrich Syndrome

Back 15

X-linked; Low IgM (nl-high IgA and IgE)-- recurrent pyogenic infections, thromocytopenic purpura, Eczema

*WIPE