Liver Function II - Seidler Flashcards
This lecture sucks hairy fucking balls
FML
what would an absence of cortisol cause?
death by hypoglycemia
what is the purpose of the biotin cycle?
carboxylase creation and get pruvate out of mito matrix to cytosol
what condition does a biotin deficiency lead to?
lactic acidosis
what symptoms does lactic acidosis lead to?
rashes, brittle hair, etc.
how do you measure biotin?
urine
how do you measure biotindiase?
biocytin in urine
pepck def is inherited how?
autosomal recessive
what does PEPCK do?
oxaloacetate to PEP
what symptoms does an individual with PEPCK def?
hepatomegaly and hypoglycemia, acidemia, loss of m. tone, failure to thrive
What does F1,6 BP deficency cause? and when?
lactic acidosis, hypoglycemia, hyperventilation, ketosis, apnea; early childhood
what should you not eat if you have a biotin def?
egg whites
Von Gierke Disease is called what?
glycogen storage dz 1a
what enyzme is def in VG dz?
G6P-ase
what are symptoms of VG dz?
hypoglycemia, lactic acidosis, hepatomegaly and Retarded Growth
GSD 1b is due to what?
def. in transporter of G6P from cytosol to ER
symptoms of GSD1b?
hypoglycemia
how does someone recover from GSD1b?
liver transplant
what is the primer for glycogen synthesis?
glycogenin
what is the rate-limiting step in glycogenolysis?
glycogen phosphorylase creating G1P
if you have a glycogen phosphorylase def in the liver you have what dz?
Hers dz; GSD6
Dz that results from glycogen phosphorylase in skeletal m.?
mcardle dz; GSD 5
what dz results due to def in alpha 1,6 glucosidase?
cori dz; GSD3
Andersen Disease results due to def of what? other name?
glucosyl 4:6 transferase absent; GSD 4
what does GSD4 result in in cells?
very long, unbranched glycogen?
what does pompe dz result from? other name?
acid maltase def; GSD 2
