Biochemical

Question 1

Urea cycle disorders

Answer 1

Question 2

Alkaptonuria

Answer 2

Question 3

Glutaric aciduria type 1 (GA1)

Defects in……..metabolism
What increases in urine?
what is the marker in NBS?

Answer 3

Lysin

urine organics with elevated glutaric,
3-OH glutaric

on NBS panels ( increase in C5-DC)

Question 4

Canvan disease

Mutation in …….gene
Main symptomes ( 2 points)…..
high…….in th Urine

Answer 4

ASPA gene
Hypotonia and optic atrophy
N-acetyl aspartic acid (NAA)

Canvan > NAA

Question 5

Fatty acid oxidation

Answer 5

Question 6

Fatty acid oxidation disorders summary:
General points:
MCAD:
VLCAD:
GAII:
CPTII:

Answer 6

Question 7

In fatty acid oxidation, ketogenesis occurs in the ……
Direct acetyl-coA oxidation occurs in the……

Answer 7

liver
Brain

Question 8

What are the main symptomes of fatty acid oxidation disorders?

Answer 8

Hypoglycemia with encephalopathy
May have hepatomegaly woth elevated liver enzyme
Hyperammonia and metabolic disorders

Question 9

PA and MMA Metabolism

Answer 9

Question 10

Organic acid disorders

Answer 10

Question 11

In carbohydrate disorders, explain PDC deficiency

Answer 11

Question 12

In carbohydrate disorders, explain galactosemia?

Answer 12

Question 13

What are the symptomes and diagnosis of galactosemia?

Answer 13

Question 14

What are different types of Glycogen storage diseases (GSD)?
Explain glycogenesis?

Answer 14

GSD types I to IV

Question 15

Explain GSD type I

Answer 15

Question 16

Explain GSD type II

Answer 16

Question 17

Explain GSD type III

Answer 17

Question 18

Explain GSD type IV

Answer 18

Question 19

Explain GSD type IV