metabolic disease

Question 1

high phenylalanine levels result in

Answer 1

defective myelination
cognitive problems
seizures
small brain

Question 2

low brain tyrosine and tryptophan levels leads to low

Answer 2

Dopamine and seratonin

Question 3

Normal phenylalanine levels

Answer 3

<120 umol/L

Question 4

Normal IQ requires ? phenyl levels

Answer 4

< 400

Question 5

for each elevation of Phenylalanine by 300

Answer 5

IQ drops by 0.5 SD

Question 6

can reduce Phenlyalanine levels by

Answer 6

reducing substrate
giving large neutral aas
giving BH4 enhances the enzyme activity

Question 7

GSD type 1 results in

Answer 7

hepatomegaly
hypoglycemia (no glucose)
high TGs
hIGH uric acid

Question 8

In organelle disease symptoms are progressive, permanent and

Answer 8

INDEPENDENT OF FOOD INTAKE

Question 9

mitcohondrial disorders may manifest where?

Answer 9

• in high energy organs
  muscle
  brain
  heart

Question 10

3 mucopolysaccharides

Answer 10

1- heparan sulfate (brain)
2- dermatan sulfate (brain accummulation)
3 - keratan sulfate (accummulates in bone)

Question 11

MPS type 1 disease -

Answer 11

Hurler syndrome

Question 12

features of hurler syndrome

Answer 12

1- chronic runny nose
recurrent otitis media
umbilical and inguinal hernias
coarse facies 
corneal clouding
increase in all three MPSs

Question 13

MPS1 has a defect in

Answer 13

Iduronidase enzyme - defects can range

treat with ERT- MPS1 - recombinant enzyme

Question 14

what are the limitations of ERT?

Answer 14

safety - allergic reactions
Hard to reach systems - BBB and articular system
Knowing when to start/stop
$$$

Question 15

When should you think about organelle disease?

Answer 15

1- regression
2- chronic course
3- dysmorphism