Subtopic- Glycogen and Lysosomal Storage Disorders I Flashcards
How many glycogen storage diseases are there and what conditions are characteristic of all glycogen storage diseases?
12 types, all which result in abnormal glycogen metabolism and an accumulation of glycogen within cells (p.111)
Describe the findings associated with Von Gierke’s disease (type I).
Glycogen storage disease; severe fasting hypoglycemia, increased glycogen in the liver, increased blood lactate, hepatomeagly (p.111)
Describe the findings associated with Pompe’s disease (type II).
Glycogen storage disease; Cardiomeagly and systemic findings (heart, liver, muscle) leading to early death (p.111)
Describe the findings associated with Cori’s disease (type III)
Glycogen storage disease that is a milder form of von Gierke’s disease with normal blood lactate levels. Gluconeogenesis is intact (p.111)
Describe the findings associated with McArdle’s disease (type V).
Glycogen storage disease; increased glycogen in muscle that can not be broken down which leads to painful cramps and myoglobinuria with strenuous exercise (p.111)
What enzyme is deficient in von Gierke’s disease?
Glucose-6-phosphatase (p.111)
What enzyme is deficient in Pompe’s disease?
Lysosomal a-1,4-glucosidase (acid maltase) (p.111)
What enzyme is deficient in Cori’s disease?
Debranching enzyme (a-1,6-glucosidase) (p.111)
What enzyme is deficient in McArdle’s disease?
Skeletal muscle glycogen phosphorylase (p.111)
How is von Gierke’s disease inherited?
Autosomal recessive (p.111)
How is Pompe’s disease inherited?
Autosomal recessive (p.111)
How is Cori’s disease inherited?
Autosomal recessive (p.111)
How is McArdle’s disease inherited?
Autosomal recessive (p.111)
What is the general pathology associated with lysosomal storage diseases?
A deficiency in one of the many lysosomal enzymes that results in an accumulation of abnormal metabolic products (p.112)
Describe the findings associated with Fabry’s disease.
Peripheral neuropathy of the hands and feet, angiokeratomas, cardiovascular/renal disease (p.112)
Describe the findings associated with Gaucher’s disease.
Hepatosplenomeagly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages that look like crumpled tissue paper) (p.112)
Describe the findings associated with Niemann Pick disease.
Progressive neurodegeneration, hepatosplenomeagly, cherry-red spot on macula, foam cells (p.112)
Describe the findings associated with Tay-Sachs disease.
Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomeagly (p.112)
Describe the findings associated with Krabbe’s disease.
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells (p.112)
Describe the findings associated with Metachromatic leukodystrophy.
Central and peripheral demylination with ataxia and dementia (p.112)
Describe the findings associated with Hurler’s syndrome.
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomeagly (p.112)
Describe the findings associated with Hunter’s syndrome.
Mild Hurler’s syndrome (developmental delay, gargoylism, airway obstruction, hepatosplenomeagly) and aggressive behaviour. NO corneal clouding (p.112)
What type of lysosomal storage disease is Fabry’s disease?
A Sphingolipidosis (p.112)
What type of lysosomal storage disease is Gaucher’s disease?
The most common sphingolipidosis (p.112)
What type of lysosomal storage disease is Niemann Pick disease?
A Sphingolipidosis (p.112)
What type of lysosomal storage disease is Tay-Sachs disease?
A Sphingolipidosis (p.112)
What type of lysosomal storage disease is Krabbe’s disease?
A Sphingolipidosis (p.112)
What type of lysosomal storage disease is Metachromatic leukodystrophy?
A Sphingolipidosis (p.112)
