Metabolism disorders Flashcards
Immunodefiency+ Denatured hemoglobin within RBCs and Hemolytic Anemia?
G6PD def.
G6PD is due what kind of drugs/chemicals?
Fava beans Sulfonamides, Primaquine
G6PD is what kind of a disorder and who is more common, what resistance do they have?
X-Linked Blacks Malarial resistance
Fructose Intolerance is a def. of?
Aldolase B
Consumption of only fruits/juice/honey?
Fructose Intolerance
When does Fructose Intolerance usually occur?
Occurs after baby is NOT given breast milk, which has galactose
Recurrent Ecoli sepsis, Cataracts and MR?
Classic Galactosemia
Classic Galactosemia is a def. of?
Uridyltransferase
Fructose is to Aldolase B as Galactose is to?
Uridyltransferase
Why do Schwann cells, retina and kidney get sorbitol accumulation?
Only have aldose reductase
Other places have sorbitol converting to?
Fructose
Bloating after drinking milk?
Brush Border Enzyme def.
Which Amino Acids are increased in Histones?
Arg and Lys
Which Amino Acids are required for growth?
Arg and His
Homocysteinuria (AR) vs Marfan Syndrome. What are the similarities and differences?
Similarity: Similar presentation (i.e. subluxation of the lens, kyphosis)
Difference: Homocyst**einuria patients have MR (**Cyst in the brain); Limited joint movement (cyst in the joint)=> where as Marfan you have Loose joints
Homocysteinuria causes its symptoms because of cystathioine synthase deficiency. Why does it cause these symptoms?
Crosslinking of SH bonds on Homocysteinuria=>ectopia lentis and skeletal deformities (limited joint)
homocysteic acid excites the brain=>mental retardation and seizures
Patients with Homocysteinuria will have elevated levels of homocysteine and? Why?
Methionine because homocysteine will not be able to become cystathionine but will be methylated to become methionine.
A patient is on a strict diet with very small amounts of carbs to lose weight. Where will he get his glucose from and specifically what part of this molecule will you get it from? What about a person who is truly starving?
Diet: Losing Fat; use glycerol by phosphorylating it to Glycerol 3-phosphate
True Starvation: Losing proteins
An alcoholic will have higher ratios of what to what? Why? What are its consequences?
NADH to NAD+ ratio because ETOH dehydrogenase and acetaldehyde dehydrogenase both increase NAD+ to NADH which increases NADH
1. Inhibit Fat Oxidation
2. Inhibit Gluconeogenesis
3. Increase Lactic Acid
A 6 month old girl has chills, sweating and is irritable. Symptoms started after feeding child apple sauce and pears and it had appeared 1 hour after the consumption of the food. What age group is this most commonly found? Risk Factors? Acute/Chronic? What system is this in? Dx? What is the enzyme that is defective?
Fructose Intolerance
Age: 6-7 months
Risk Factors: Eating any sugar that contains fructose
Acute, GI
Fructose Intolerance
Fructose-1-phosphate (Aldolase B)
