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

18 Cards in this Set

  • Front
  • Back
What enzyme is deficienct in Fabry's disease?

What is accumulated substrate?
1) Alpha-glucosidase A
2) Ceramide trihexosidase
What is genetic inheritance of Fabry's disease?
Sex-linked recessive (like Lesch-Nyan Syndrome)
What are some findings of Fabry's disease?
1) Peripheral neuropathy
2) Clusters of purplish-red hyperkeratotic skin lesions on skin, umbilicus, buttocks, and scrotum. --> Angiokeratomas
3) HTN
4) Renal Failure --> MC COD
What enzyme is deficient in Gaucher's disease?

What is the accumulated substrate?
1) B-glucocerebrosidase

2) Glucocerebrosidase
What are the symptoms of Gaucher's disease?

Aseptic necrosis of femur

Bone Crisis

Gaucher's cells (macrophages)
What enzyme is deficient in Niemann-Pick disease?

What is accumulated?

What are symptoms of Niemann-Pick Disease?


Cherry red spot (on macula)
What enzyme is deficient in Tay Sachs disease?
Hexosaminidase A

Build up of GM2 ganglioside.
What are symptoms of Tay-Sachs disease?

Developmental Develop

Cherry red spot/Blindness

NO Hepatomegaly because only involves CNS!!!
What enzyme is deficiency in Krabbe's disease?

Galactocerebrosidase accumulate
What are some symptoms of Krabbe's disease?
Peripheral neuropathy

Developmental delay

Abnormal synthesis of white matter: demyelination.
What is enzyme deficiency of metachromatic leukodystrophy?
Arylsulfatase A

Buildup of cerebroside sulfate
What are symptoms of metachromatic leukodystrophy?
Central and peripheral demyelination with ataxia and dementia.
What is deficiency of Hurler's syndrome?

Buildup of herparan sulfate, dermatan sulfate
What are symptoms of Hurler's syndrome?
Developmental delay, gargoylism, airway obstruction, corneal clouding, CAD, hepatosplenomegaly!
What enzyme is deficient in Hunter's syndrome?
Iduoronate sulfatase

Buildup of heparan sulfate, dermatan sulfate
What are symptoms of Hunter's syndrome?
Mild Hurler's + agressive behavior, no corneal clouding.
What is genetic inheritance of Hunters?
X-linked recessive.