GLYCOGEN STORAGE DISEASE Flashcards
rare conditions the affected individual can’t use or store glycogen properly
GLYCOGEN STORAGE DISEASE
Body creates glycogen from glucose through a
process called?
glycogenesis
When your body needs extra fuel, it breaks
down glycogen for use through a process called?
glycogenolysis
What is the unique sign and symptom of Glycogen Storage Disease?
Hyperphagia
It is a type of Glycogen Storage Disease that has a unique historical significance.
Pompe Disease
Black Urine Disease
Black Bone Disease
ALKAPTONURIA
Inhibits the body from completely breaking down two protein building blocks (amino acids) named tyrosine and phenylalanine
Alkaptonuria
What are the the inhibited protein in Alkaptonuria?
Tyrosine and Phenylalanine
Alkaptonuria is the disease that is caused by?
Homogentisic dioxygenase
It is the first Mendelian disorders to be identified and discovered by Archibald Garrod in 1902.
Alkaptonuria
William Osler described Alkaptonuria as?
Rare anomaly