Bio

Question 1

What are the causes of phenylketonuria

Answer 1

Deficiency Of
Phenylalanine hydroxylase
Digydrobiopetrine reductase and biosynthesis

Question 2

What does the def of DHB cause

Answer 2

Decrease in seretonin and catecholamins

Question 3

What are the clinical pictures

Answer 3

1-Mental retardation

2-Depigmentation

3-bad mousy odor

Question 4

What is the treatment of phenylketonuria

Answer 4

1-decrease phenylalanine in diet

2-supplement if tyrosine

3-give seretonin and DOPA if there is DHB deficiency

Question 5

How is maple syrup urine disease caused

Answer 5

Deficiency of dehydrogenase complex which catalyzes the oxidative decaeboxylation
The branched AA and their alpha Keto acid accumulate and interfere with brain functions

Question 6

What are the symptoms and treatment m?

Answer 6

Mental retardation and may lead to early death
Treated by low branched alpha AA in diet

Question 7

What is the cause and symptoms of homocystinria

Answer 7

Def of cystathionine synthase
1-deep vein thrombosis
2-stroke
3-atherosclerosis
4-Marfan habitually syndrome
5-mental retardation
6-joint contracture

Question 8

What are the causes and stnptoms of alkaptonuria

Answer 8

Def of homogentisate oxidase
Ochronosis
Dark urine
Arthritis