Diseases

Question 1

Treat this with niacin supplementation

Answer 1

Hartnup’s disease: defective tryptophan transport

Question 2

Cystinuria characterized by what

Answer 2

cystine stones!

Question 3

What enzyme is mutated in Glutathionuria?

Answer 3

GGT; cannot convert GSH–>y-glutamylAA

Question 4

Defective GSH syntathase leads to buildup of what

Answer 4

5-oxoproline

Question 5

Penicillamine does what

Answer 5

makes cystine stones soluble. treats cystinuria

Question 6

Arginase is important for what cellular process?

Answer 6

Urea cycle

Question 7

Where do the nitrogens from urea come from

Answer 7

Aspartate and Glutamate

Question 8

Argininosuccinicaciduria is caused by what

Answer 8

defective arginosuccinate lyase

Question 9

Which amino acid is part of the GSH cycle

Answer 9

cysteine

Question 10

Citrullinemia is caused by what

Answer 10

defective argininosuccinate synthase

Question 11

In Zellweger what should patients avoid

Answer 11

Branched and VLCFA

Question 12

What is the pathophys behind Zellweger?

Answer 12

lack of peroxisomal biogenesis

Question 13

Describe Refsum

Answer 13

lack of a-ox enzymes, avoid branched FA

Question 14

Describe Andrenoleukodystrophy

Answer 14

no VLCFA transport so avoid it

Question 15

Which disorder is a result of ATP decoupling

Answer 15

Arsenate poisoning

Question 16

What is pyruvate carboxylase responsible for?

Answer 16

converting pyruvate to oxaloacetate

Question 17

What results in neural tube defects

Answer 17

folate deficiency

Question 18

What is arsenite poisoning

Answer 18

arsenite binds to lipoate cofactor and prevents formation of acetyl-coA

Question 19

How can you avoid lactic acidosis

Answer 19

avoid anaerobic activities

Question 20

Describe Leber’s

Answer 20

Leber’s hereditary optic neuropathy. Complex I or NADH-Q mutations

Question 21

Leigh’s has mutations in what

Answer 21

complex I or IV

Question 22

What is defected in the disease with red ragged fibers

Answer 22

referring to MERFF, tRNA-lys

Question 23

What is the predominant clinical characteristic in MERFF

Answer 23

myoclonic epilepsey, treat with coQ10

Question 24

CPTII is responsible for what

Answer 24

long chain FA transport into the mitochondria for oxidation

Question 25

acute myoglobinuria is present in what disorder

Answer 25

CPTII deficiency

Question 26

Carnitine is important in what process

Answer 26

FA transport to mitochondria

Question 27

Hypoglycin causes what

Answer 27

Jamaican vomitting sickness, don't eat SCFA, MCFA (no transporter)

Question 28

MCAD stands for what

Answer 28

medium chain acyl-coA dehydrogenase defeciency

Question 29

what complex is impaired by cyanide poisoning

Answer 29

complex IV (binds to Fe)

Question 30

Succinyl Co-A is produced from what

Answer 30

methylmalonylcoA mutase

Question 31

PKU involves what

Answer 31

phenylketonuria buildup, lack of tyrosine. defected PAH

Question 32

Diet soda should be avoided in what disorder

Answer 32

PKU, because it contains aspartame which leads to more phenylalanine

Question 33

What has gone wrong in homocysteinuria

Answer 33

defective cystathione B synthase (CBS), requires PLP/B6

Question 34

What enzyme is responsible for producing cysteine

Answer 34

cystathioninase

Question 35

cystathionine is the precursor for what three proteins/AA?

Answer 35

cysteine, a-ketobutylrate, homocysteine

Question 36

Spare methionine with what

Answer 36

cysteine

Question 37

Which amino acid transports fatty acids to liver

Answer 37

alanine

Question 38

What is required to form NO (three things)

Answer 38

arginine, oxygen, NOS (NADPH, FMD, FAD, heme, BH4, calcium, calmodulin are also required)

Question 39

what is formed from the junction of arginine and glycine?

Answer 39

creatine/creatinine

Question 40

Proline comes from what

Answer 40

glutamate

Question 41

What is the rate limiting step in Heme synthesis

Answer 41

ALA synthase (ALA formation)

Question 42

Aspartate comes from what

Answer 42

oxaloacetate

Question 43

Asparagine comes from what

Answer 43

aspartate

Question 44

Tryptophan is responsible for forming what 3 important proteins

Answer 44

serotonin, melatonin, niacin

Question 45

What is the precursor of DOPA

Answer 45

tyrosine

Question 46

Lack of GSH is fatal, but GSH deficiency results in what

Answer 46

hemolytic anemia

Question 47

Lack of niacin leads to what clinical feature

Answer 47

Pellagra

Question 48

You must avoid VLCFA in what two disorders

Answer 48

Adrenoleukodystrophy and Zellwegers