Metabolic Profile of the Brain

Question 1

what are the GLUT transporters responsible for bringing glucose into the brain ?

Answer 1

Glut 1 and Glut 3

Question 2

what types of amino acids compete for transporter #4

Answer 2

phe, tyr, try and branched chain amino acids

Question 3

serotonin and melatonin are made from

Answer 3

tryptophan

Question 4

what inhibit the production of serotonin and melatonin

Answer 4

branch chain amino acids

Question 5

phenylketonuria is a deficiency in

Answer 5

phenylalanine hydroxylase

Question 6

people with PKU disease often have decreased _______ synthesis resulting in a deficiency in pigmentation

Answer 6

melanin

Question 7

what aa becomes essential in people with PKU

Answer 7

tyrosine

Question 8

where are ketone bodies produced

Answer 8

liver

Question 9

what is the main energy source when the body is in acute hypoglycemia (24 hours starvation)

Answer 9

glucose

Question 10

what is the main energy source for prolonged hypoglycemia (starvation)

Answer 10

liver produces ketone bodies that take over for glucose and serve as the major energy source thus sparing muscle protein

Question 11

glutamate is made from

Answer 11

glucose via alpha ketogluturate

Question 12

GABA is made from

Answer 12

glutamate

Question 13

glutathionine is made from

Answer 13

glutamate

Question 14

The Pentose phosphate pathway is essential for

Answer 14

antioxidant system and lipogenesis

Question 15

composition of sphingolipids

Answer 15

sphingosine + fatty acid + X

Question 16

glucose + ceramide

Answer 16

glucocerebroside

Question 17

galactocerebroside

Answer 17

galactose + ceramide

Question 18

what accumulates in gaucher disease

Answer 18

glucocrebroside

Question 19

what accumulates in Krabbe’s disease

Answer 19

galactocerebroside

Question 20

ceramides containing a sulphated galactose

Answer 20

sulphatides

Question 21

what accumulates in metachromatic leukodystrophy-MLD

Answer 21

suplphatides

Question 22

ceramide oligosaccharides containing one or more mols of NANA (sialic acid)

Answer 22

gangliosides

Question 23

what acccumulates in TaySach’s diseasee

Answer 23

gangliosides (GM2)

Question 24

what is the enzyme is deficiency in tay sach’s disese

Answer 24

hexosamindase A

Question 25

what enzyme is deficient in fabry disease

Answer 25

alpha glactosidase A

Question 26

what enzyme if deficient in Krabbe disese

Answer 26

beta galactosidase

Question 27

what enzyme is deficieny in metacrhomatic leukodystrophy

Answer 27

arylsulfatase A

Question 28

what enzyme is deficient in Niemann pick disease

Answer 28

sphingomyelinase

Question 29

cherry red spot on the macula

Answer 29

tay-sach's disease

Question 30

what is the substance that accumulates in gaucher disease

Answer 30

glucocerebroside

Question 31

what is the substrate that accumulates in tay sach's disease

Answer 31

ganglioside Gm2

Question 32

what is the substrate that accumulates in krabbe disease

Answer 32

glactocerebroside

Question 33

what substances accumulates in fabry disease

Answer 33

ceramide trihexoside

Question 34

what accumulates in niemann pick disease A and B

Answer 34

sphingomylein

Question 35

what accumulates in niemann pick C and D

Answer 35

cholesterol

Question 36

hepatosplenomegaly, metal retardation, crupled tissue paper appearance

Answer 36

gaucher disese

Question 37

metal retardation, blindness, death in infancy, cherry red spot on macula

Answer 37

tay sachs

Question 38

hepatosplenomegaly, metal retardation, cholesterol accumulation

Answer 38

niemann pick

Question 39

skin rash, kidney failure

Answer 39

fabry disease

Question 40

mental retradation, absence of myelin

Answer 40

krabbe disease

Question 41

what sphingolipidoses is X linked

Answer 41

Fabry disease

Question 42

what are the three types of gaucher disease

Answer 42

non-neuronopathic acute neuronopathic subacute neuronopathic

Question 43

what form of gaucher disease affects infants

Answer 43

type 2

Question 44

what type of gaucher is primary CNS disease

Answer 44

type 2

Question 45

skeletal abnormalities is present in what type of gaucher

Answer 45

type 1 and type 3

Question 46

reactions that use vitamin B12

Answer 46

convert homocysteine to methionine and to convert methylmalonly to succinyl coa

Question 47

in vitamin b12 deficiency what accumulates in the urine

Answer 47

methyl malonate

Question 48

how does the accumulation of methylmalonyl CoA interfere with myelin sheath formation

Answer 48

by competitive inhibition of malonyl CoA carboxylase | by disrupting membrane structure through incorporation of methylmalonyl CoA producing branched chain fatty acids

Question 49

how of ammonia reoved

Answer 49

by a glutamine synthetase reaction

Question 50

the glutamate synthetase reaction converts

Answer 50

glutamate to gluamine

Question 51

what does glutamine do to the mitochondria

Answer 51

increases mitochondrial permeability

Question 52

removal of alpha ketogluturate from the TCA cycle results in

Answer 52

depletion of ATP

Question 53

what other things also deplete when you ahve too much ammonia

Answer 53

glutamate and GABA

Question 54

what are the two common causes of hyperammoniemia

Answer 54

acquired hyperammonemia (liver disease) and hereditary hyperammonemia (genetic deficiency of a urea cycle enzyme)

Question 55

type I urea cycle deficiency

Answer 55

carbomyl phosphate synthetase deficiency, lethal neonatal

Question 56

type II urea cycle deficiency

Answer 56

ornithine transcarbamoylase deficiency, X linked, most common, treat with arginigne and low protien diet