Exam 3 GSD's and "Review Session" Flashcards
Aspartate gets deaminated to form
aspartate gets deaminated to form oxaloacetate
What happens with a genetic defeciency in glucose 6 phosphate dehydrogenase?
Hemolytic anemia
What gluconeogenic enzyme is in the mitochondria?
Pyruvate Carboxylase
What is the precursor AA for epinephrine
TYROSINE
Transamination events for AA synthesis
What is the donor
What is the acceptor
AA acts as amino donor
alpha keto acid acts as amino receptor
Describe PKU briefly
PKU is defective phenylalanine hydroxylase enzyme
Can’t convert phenylalanine to tyrosine
FEED first and then wait and then test
Concequence of phenylalanine toxicity: CNS defects
What is the primer for glycogen
Glycogenin
Explain GSD I or “von Gierke’s disease”
Defective enzyme
location
concequences
GSD I:
defective glucose 6 phosphatase
liver
large liver, failure to thrive, hypoglycemia, etc
Explain GSD II or “Pompe’s disease”
Defective enzyme
Location
Concequences
GSD II:
1, 4 alpha Glucosidase
All organs
death
GSD III or “Cori Disease”
Defective enzyme
Location
Concequences
Cori’s Disease or GSD III
Glycogen Debranching enzyme is defective
Muscle and liver
Like type I but milder
Explain GSD 4 / Anderson’s Disease
Defective Enzyme
Location
Concequences
GSD IV / Anderson’s Disease
Glycogen Branching Enzyme
Liver and spleen
Liver failure
GSD V / Mcardles diseae
Defective enzyme
Location
Concequences
GSD V / Mcardles Disease
Defective enzyme is glycogen phosphorylase
Muscle
Can’t exercise
GSD VI/ Hers Disease
Defective Enzyme
Location
Concequences
GSD VI / Hers
Defective Enzyme: Glycogen Phosphorylase
Liver
Like type I but milder
Which two GSD’s have defective glycogen phosphorylase?
What is the difference between the two?
GSD 5 and GSD 6 have defective glycogen phosphorylases
Difference between the two is tissue location:
GSD 5 is in muscle
GSD 6 is in liver
