first SF 2017

Question 1

cofactor tyrosine hydroxylase

Answer 1

tetrahydrobiopterin, O2 and Fe2+

Question 2

deficient enzyme in hyperuricemia

Answer 2

HGPRT - > lest nyhan

Question 3

lactic acidosis

Answer 3

causes: glucose 6 phosphatase deficiency . fruktose 1,6 bisphosphatase deficiency ,pyruvate carboxylase and pyruvate dehydrogenase deficiency
symptômes : vomiting.nausa.muscle weakness,rapid breathing
treatment:hemofiltration for filtering blood from lactate ,

Question 4

product of glycogen phosphorylase

Answer 4

G1P

Question 5

UMP synthase reaction

Answer 5

oratate + PRPP = PPi + UMP

Question 6

AMP/adenylate deaminase reaction

Answer 6

amp = imp + nh4+

Question 7

methylmalonyl coa mutase

Answer 7

l-methylmalonyl + vitamin B12 = succinyl coa

Question 8

threonine dehydratase

Answer 8

threonine = alphaKB + NH3

cofactor: PLP

Question 9

orotic aciduria

Answer 9

deficient etc enzyme and UMP synthase enzyme

Question 10

LPL deficiency

Answer 10

high TG plasma level, pancreatitis, hepatosplenomegaly

Question 11

carnitine function

Answer 11

transport long chain fatty acid into mitochondria, maintain acetyl coach homeostasis

Question 12

from citrulline to ornitine

Answer 12

arginosuccinate synthase, arginosuccinate lyase, arginase

Question 13

free ammonia to citrulline

Answer 13

carmbomoyl phosphate synthase 1 and ornithine transcarbomoylase

Question 14

phenylketonuria

Answer 14

inability to convert phenylalanine to tyrosine.
lack of phenylalanine hydroxylase,(type 1 or classic phenylketonuria )
treatment: decrease free phenylalanine in diet.
symptomes: if we expose urin to the air it will turn black. not delicate smell!!