SYSTEMIC CARNITINE DEFICIENCY

Question 1

naturally occuring amino acid derivative, produced by kidneys and liver

Answer 1

systemic carnitine deficiency

Question 2

carnitine is synthesized endogenously from essential amino acid ______ with terminal groups donated by _____ (SAM)

Answer 2

lysine and s-adenosylmethionine

Question 3

systemic carnitine deficiency is a _____ disorder that prevents the body from utilizing fats for energy

Answer 3

autosomal recessive disorder

Question 4

3 areas of involvement include:

the _______ which is affected by progressive cardiomyopathy

Answer 4

cardiac muscle

Question 5

3 areas of involvement include:

the _______ which is affected by encephalopathy caused by hypoketotic hypoglycemia

Answer 5

central nervous system

Question 6

3 areas of involvement include

the __________- which is effected by myopathy

Answer 6

skeletal muscle

Question 7

autosomal recessive disorder wherein both parents should have defect in SLC22A5 gene which is responsible for carnitine production and OCTN2 mutations impair transporters to plasma membrane

Answer 7

primary SCD

Question 8

secondary to metabolic disorder

Answer 8

secondary SCD

Question 9

affects only the liver resulting in reduced fatty acid oxidation and lipid accumulation and ketogenesis with hypoglycemia

Answer 9

inherited CPT-2 deficiency

Question 10

primary SCD

autosomal recessive disorder wherein both parents should have defect in _______ gene which is responsible for carnitine production and _______ mutations impair transporters to plasma membrane

Answer 10

SLC22A5 gene
OCTN2 mutations

Question 11

_____________ - consequence of impaired fatty acid oxidation and lipid accumulation with muscular weakness

Answer 11

hypoglycemia

Question 12

mutations in the ______ gene cause systemic carnitine deficiency

Answer 12

SLC22A5 gene

Question 13

The SLC22A5 gene provides instructions for making protein called _____ that transports carnitine cells

Answer 13

OCTN2

Question 14

________ serves as a carrier of long chain fatty acids across the mitochondrial membrane

Answer 14

carnitine

Question 15

in the cytosol FFA are activated by esterification to CoAsh by ______________ synthetase

Answer 15

acyl coa synthetase

Question 16

Net _____ ATP equivalents is consumed to activate 1 FFA to a thioester

Answer 16

2 ATP

Question 17

formation of _________ through the enzyme CPT1

Answer 17

acylcarnitine

Question 18

formation of acylcarnitine through the enzyme ____________

Answer 18

Carnitine palmitoyl transferase-1

Question 19

Formation of Acylcarnitine through the enzyme CPT1

Acylcarnitine will now be transferred to the matrix in exchange for another free carnitine through ______________

Answer 19

carnitine acylcarnitine translocase

Question 20

carnitine and fatty acyl CoA liberation

one acylcarnitine is inside the mitochondrial matrix _______ will break down acylcarnitine into carnitine and fatty acyl CoA

Answer 20

CPT2

Question 21

most peripheral tissues which normally use fatty acids, become glucose dependent

increased _________

Answer 21

gluconeogenesis

Question 22

enzymes located at the outer mitochondrial membrane

Answer 22

acyl-coA synthetase
CPT-1

Question 23

enzymes located at the inner mitochondrial membrane

Answer 23

carnitine acylcarnitine translocase
CPT-2

Question 24

in the presence of ATP and coenzyme A, the enzyme ___________- catalyzes the conversion of a fatty acid to an “active fatty acid” or acyl-CoA using one high energy phosphate and forming AMP and PP1

Answer 24

acyl-coA synthetase (thiokinase)

Question 25

in the presence of ATP and coenzyme A, the enzyme acyl coA synthetase (thiokinase) catalyzes the conversion of a fatty acid to an "active fatty acid" or acyl-CoA using one high energy ___________ and forming AMP and PP1

Answer 25

high energy phosphate

Question 26

in the presence of carnitine however ____________, located in the outer mitochondrial membrane, transfers the long chain acyl group from CoA to carnitine, forming acylcarnitine and releasing CoA.

Answer 26

Carnitine palmitoyltransferase-I

Question 27

in the presence of carnitine however carnitine palmitoyltransferase-I, located in the outer mitochondrial membrane, transfers the long chain acyl group from CoA to carnitine, forming ____________________.

Answer 27

acylcarnitine and releasing CoA

Question 28

acylcarnitine is able to penetrate the inner membrane and gain access to the beta oxidation system of enzymes via the inner membrane exchange transporter ____________

Answer 28

carnitine acylcarnitine translocase

Question 29

the acylgroup is then transfered to CoA so that acyl-CoA is reformed and carnitine is liberated. This reaction is catalyzed by ___________

Answer 29

carnitine palmitoyl transferase II

Question 30

carnitine palmitoyl transferase II is located on the inside of the _________-

Answer 30

inner mitochondrial membrane

Question 31

inherited _________ affects only the Liver, resulting in reduced fatty acid oxyidation and ketogenesis, with hypoglycemia

Answer 31

CPTI- deficiency

Question 32

____________ deficiency affects primarily the skeletal muscle and when severe the liver.

Answer 32

CPTII deficiency

Question 33

the ___________ drugs (glyburide, glibenclamide and tolbutamide), used in the treatment of type 2 diabetes mellitus, reduce fatty acid oxidation and therefore hyperglycemia by inhibiting CPT-1

Answer 33

sulfonylurea drugs