Metabolism disorders

Question 1

Immunodefiency+ Denatured hemoglobin within RBCs and Hemolytic Anemia?

Answer 1

G6PD def.

Question 2

G6PD is due what kind of drugs/chemicals?

Answer 2

Fava beans Sulfonamides, Primaquine

Question 3

G6PD is what kind of a disorder and who is more common, what resistance do they have?

Answer 3

X-Linked Blacks Malarial resistance

Question 4

Fructose Intolerance is a def. of?

Answer 4

Aldolase B

Question 5

Consumption of only fruits/juice/honey?

Answer 5

Fructose Intolerance

Question 6

When does Fructose Intolerance usually occur?

Answer 6

Occurs after baby is NOT given breast milk, which has galactose

Question 7

Recurrent Ecoli sepsis, Cataracts and MR?

Answer 7

Classic Galactosemia

Question 8

Classic Galactosemia is a def. of?

Answer 8

Uridyltransferase

Question 9

Fructose is to Aldolase B as Galactose is to?

Answer 9

Uridyltransferase

Question 10

Why do Schwann cells, retina and kidney get sorbitol accumulation?

Answer 10

Only have aldose reductase

Question 11

Other places have sorbitol converting to?

Answer 11

Fructose

Question 12

Bloating after drinking milk?

Answer 12

Brush Border Enzyme def.

Question 13

Which Amino Acids are increased in Histones?

Answer 13

Arg and Lys

Question 14

Which Amino Acids are required for growth?

Answer 14

Arg and His

Question 15

Homocysteinuria (AR) vs Marfan Syndrome. What are the similarities and differences?

Answer 15

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

Question 16

Homocysteinuria causes its symptoms because of cystathioine synthase deficiency. Why does it cause these symptoms?

Answer 16

Crosslinking of SH bonds on Homocysteinuria=>ectopia lentis and skeletal deformities (limited joint)

homocysteic acid excites the brain=>mental retardation and seizures

Question 17

Patients with Homocysteinuria will have elevated levels of homocysteine and? Why?

Answer 17

Methionine because homocysteine will not be able to become cystathionine but will be methylated to become methionine.

Question 18

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?

Answer 18

Diet: Losing Fat; use glycerol by phosphorylating it to Glycerol 3-phosphate

True Starvation: Losing proteins

Question 19

An alcoholic will have higher ratios of what to what? Why? What are its consequences?

Answer 19

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

Question 20

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?

Answer 20

Fructose Intolerance

Age: 6-7 months

Risk Factors: Eating any sugar that contains fructose

Acute, GI

Fructose Intolerance

Fructose-1-phosphate (Aldolase B)