Biochem p. 108-111 Flashcards
How do you cystine stones look under x-rays?
Radiolucent just like uric acid stones
What converts glycogen to glucose?
Glycogenphosphorylase
What converts glucose into glycogen?
Glycogen synthase
In a fed state what enzyme is inhibited by insulin?
Glycogen phosphorylase
Which Nero transmitter stimulates the endoplasmic reticulum to secrete calcium?
Epi from liver
Calcium forms which complex in the muscle during contraction in order to stimulate glycogen phosphorylase kinase?
Forms calcium calmodulin complex
Does protain kinase A stimulate or inhibit glycogen synthase?
Inhibit
What kind of bonds do glycogen branches have vs glycogen linkage bonds?
Linkage –> a-(1,4) bonds
Branch –> a-(1,6) bonds
What’s another name for acid maltase? and whats the pathology association?
a-1,4-glucosidase, type II glycogen storage dz
Sudden cardiac death in teenager during exercise might be associated with what glycogen storage disease?
Pompe dz/ typ II
Which enzyme def causes glycogen storage disease with red urine and muscle breakdown?
McArdle dz/type V
What is the enzyme def in the Glycogen storage dz that causes severe fasting hypoglycemia and incr glycogen in liver?
Glucose-6-phosphatase
What is the milder form of Von Gierke disease?
type I
Cori disease (type III)
Which co-factor is needed to treat McArdle disease?
vit B6
A pt who sufferer from incr blood lactate, incr triglycerides, incr uric acid, and hepatomegaly needs to watch his diet by avoiding what and taking what?
having frequent oral glucose/cornstarch; avoiding
fructose and galactose
(Von Gierke disease)
Which glycogen storage dz doesn’t change the blood glucose levels?
McArdle dz/type V
Arylsulfatase A def is seen in?
Metachromatic
leukodystrophy
GM2 ganglioside accumulates in what dz?
Tay-Sachs disease
Glucocerebroside accumulates in what dz?
Gaucher disease
Name 2 X-linked recessive lysosomal storage dz?
Fabry disease, Hunter syndrome
Peripheral neuropathy, developmental delay, optic atrophy and globoid cells are found in which lysos storage dz?
Krabbe disease
“cherry-red” spot on macula is seen in which pathologies?
Niemann-Pick disease, Tay-Sachs disease, central retinal artery occlusion
lipid-laden macrophages is seen in which 2 pathologies?
Niemann-Pick disease, Gaucher disease
Osteoporosis, aseptic necrosis of femur and bone crises is seen in which pathology?
Gaucher disease “auch auch”
Ceramide trihexoside accumulation can cause what findings in a pt?
Peripheral neuropathy of hands/feet,
angiokeratomas, cardiovascular/renal disease.
Peripheral neuropathy is seen in which 2 lysosomal storage dz?
Fabry disease, Krabbe disease
Central and peripheral demyelination with ataxia and dementia is seen in which enzyme def that cases a lysosomal storage dz?
Metachromaticnleukodystrophy
Pt with dwarfism, unique facial features and bone deformities including an abnormally large head is seen in which lysosomal storage dz?
…gargoylism
Hurler syndrome
In whcih of the 2 paths that accumulates Heparan sulfate/dermatan sulfate is the pt’s vision limited?
Hurler syndrome
Which enzyme is deficient in the milder form than Hurler’s dz?
Iduronate sulfatase
Glycogenphosphorylase is used for what process?
converts glycogen to glucose
Glycogen synthase is used in which process?
converts glucose into glycogen
How is Glycogen phosphorylase regulated?
It gets inhibited by insulin in a fed state.
Calcium calmodulin complex stimulates which enzyme during muscle contraction?
Glycogen phosphorylase kinase
Role of Protein phosphatase during fed state. What regulates it?
During fed state insulin stimulates protein phosphate –> stimulates Glycogen synthase => stores glycogen
