Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key


Play button


Play button




Click to flip

15 Cards in this Set

  • Front
  • Back
Fabry's Disease
Def. of alpha-galactosidase A (accumulate ceramide trihexose)

X-linked recessive; peripheral neuropathy of hands/feet, angiokeratomas (purplish nodules all over body)
Gaucher's Disease
Def. of Beta-Glucocerebrosidase (accumulate glucocerebroside)

Aut recessive; hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cell (distended, filled with PAS+ fibrillary substances)
Niemann-Pick Disease
Def. of Sphingomyelinase (accumulate sphingomyelin)

AR; progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula
Tay-Sachs Disease
Def. of Hexoamanidase A (acccumulate GM2 Ganglioside)

AR; Progressive neurodegeneration, developmental delay, cherry-red spot on macula
Krabbe's Disease
Def. of Beta-galactosidase (accumulate galactocerebroside)

AR; peripheral neuropathy, developmental delay, optic atrophy
Hurler's Syndrome
Def. of alpha-L-iduronidase (accumulate heparan and dermatan sulfate)

AR; developmental delay, gargoylism, airway obstruction, corneal clouding
Hunter's Syndrome
Def. of iduronate sulfatase (accumulate heparan and dermatan sulfate)

X-linked recessive; Mild form of Hurler's +aggresive behavior and no corneal clouding
Von Gierke's Disease
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)
Pompe's Disease
Def. of lysosomal alpha-1,4-glucosidase deficiency

Cardiomegaly and systemic findings- muscle weakness, neurologic impairement

*Pompe's trashes the Pump (heart, liver, muscle)
Cori's Disease
deficiency of debranching enzyme of glycogenlysis (alpha-1,6-glucosidase)

Mild hypoglycemia, hepatomegaly
McArdle's Disease
Skeletal muscle glycogen phosphorylase deficiency-- increased glycogen in muscle but can't break it down-- painful cramps, myoglobinuria upon strenous excercise

*McArdle's --> Muscle
Type I Hypercholesterolemia
Deficiency of lipoprotein lipase (or altered ApoCII- imp for activation of Lipoprotein Lipase)

Increased Chylomicrons, Blood Triglycerides
Type IIa Hypercholesterolemia
Deficiency of LDL Receptors

Increased LDL, Cholesterol
Type IIb Hypercholesterolemia
Increased hepatic VLDL Synthesis

Increased LDL, VLDL (TG's and cholesterol in blood)
Wiskott-Aldrich Syndrome
X-linked; Low IgM (nl-high IgA and IgE)-- recurrent pyogenic infections, thromocytopenic purpura, Eczema