Qbank 7 Biochemistry July 1, 2008

Front 1

symtpoms of Tay Sachs disease:

Back 1

diminished responsiveness,
progressive blindness
deafness
seizures

Front 2

inheritance and enzyme defiency of tay sachs:

Back 2

AR
hexosaminidase A (causing an accumulation of ganglioside GM2 in neurons)

Front 3

presentation of metachromatic leukodystrophy:

Back 3

motor symptoms
deterioration with progressive tetraplegia and decerebrate state
progressive peripheral polyneuropathy and demyelination

Front 4

what is the deficiency in metachromic leukodystrophy:

Back 4

arylsulfatase A

Front 5

what is fabry disease deficiency?

Back 5

severe deficiency in galactosidease A

Front 6

what are the typical features of homocystinuria?
which amino acids are elevated?

Back 6

-bilateral lens dislocation
DVT, stroke, atherosclerosis
mental retardation
similar stigmata to marfans
-methionine and homocysteine

Front 7

1. what are the features of Tay Sachs disease?
2. which enzyme is deficient?

Back 7

1. appear normal at birth, but produce degenerative neurologic disease (diminished responsiveness, deafness, blindness, loss of neurological function, seizures)
-cherry red spots on macula
-death by 4-5 years
2. hexosaminidase

Front 8

Glut 1

Back 8

RBS, brain microvessels, kidney, colon (part of BBB and may limit glucose transport into brain)

Front 9

Glut 2

Back 9

liver, pancreatic beta cells, basolateral surface of small intestine (high capacity, low affinity)

Front 10

Glut 3

Back 10

neurons, placenta, testes (low Km)

Front 11

Glut 4

Back 11

fat, skeleton, heart (mediates insulin-stimulated glucose uptake)

Front 12

Glut 5

Back 12

small intestine, testes, sperm (small amount in kidney, skeletal, apidose, brain)
*fructose transporter

Front 13

i-cell disease
-cause:

-symptoms:

Back 13

-mannose phosphorylation defect (lysosomal enzymes end up in the Extracellular space)
-physical abnormalities: coarse facial features, thick gums, large tongue, clubbin
psychomotor retardation
growth retardation
cardiorespiratory failure leading to death in first decade.

Front 14

Niemann-Pick clinical features:

Back 14

-HSM
-progressive neurological deterioration
-cherry-red spot on fundoscopy

Front 15

Niemann-Pick defect:

Back 15

deficiency in sphingomyelinase (lysosomal storage disease) (AR disease in ashkenazi jews)

Front 16

1. Hunter syndrome inheritance:
2. deficient enzyme
3. symptoms

Back 16

1. X-linked recessive
2. iduronate sulfatase
3. HSM, kyphosis, flexion contractures, short stature, valvular, ischemic heart disease,
4. NO corneal opacities (as comp to Hurler)

Front 17

I-cell disease deficiency:

Back 17

N-acetlyglucosamine 1-phosphotransferase

Front 18

-McArdle disease deficiency:
-symptoms of McArdle disease

Back 18

-lack of muscle phosphorylase
-painful cramps and myoglobinuria during strenous excercise (no lactic acid increase)

Front 19

Andersen's disease deficiency and symptoms:

Back 19

type IV glycogen storage disease, lack of glycogen branching enzyme, progressive cirrhosis, myopathy, heart failure

Front 20

Hers disease deficiency and symptoms

Back 20

type VI glycogen storage disease
-liver phosphorylase system
-HSM and fasting hypoglycemia
*often asymptomatic

Front 21

Pompe disease deficiency and symptoms:

Back 21

type II glycogen storage disease, lysosomal acid-alpha-glucosidase, HSM, cardiomegaly, cardiomyopathy

Front 22

PKU symptoms:

Back 22

pale hair, skin, mental retardation, musty smelling urine
-albinism
-cretinism (decrease T3, T4)
-tyrosinosis (liver and kidney disease)
-alkaptonuria

Front 23

MSU
-amino acids build up
-symptoms

Back 23

-valine and isoleucine (branched chain aa)
-CNS defects, mental retardation, death

Front 24

Hartnup disease cause and presentation:

Back 24

AR caused by defective neutral aa transport in small intestine and kidneys
-pellagra like (skin eruptions, cerebellar ataxia, aminoaciduria)

Front 25

Krabbe disease:
-defect
-symptoms

Back 25

-galatosidase deficiency, effects myelin sheaths of CNS
-hypertonia, irritability, hyperesthesia, psychomotor retardation, early death

Front 26

what is the mutation in CF?

Back 26

phenylalanine at 508 (delta-F508) (interfers with post-translational processing of oligosaccharids)

Front 27

give the biochemical events in starvation:

Back 27

1. TG in adipose is hydrolyzed, releasing FA for use by liver, adipose, muscle. FA are metabolized by beta-oxidation to make acetly CoA
2. XS acetly CoA is used for ketone bodies in liver (acetoacetate and 3-hydroxybutyrate synthesis)
3. ketones are used by muscle and after 1 week by brain

Front 28

what is the effect of OTC (ornithine transcarbamylase deficiency)?

Back 28

lethagy, anorexia, poorly controlled breathing, body temp
-seizures, unusually body movement, coma
*high plasma NH3 (body cannot eliminate it)

Front 29

what is deficient in acute intermittent porphyria?
-what is excreted during acute attacks?

Back 29

-PBGD (porphobilinogen deaminase deficiency)
-ALA, PBG

Front 30

Lineweaver burk plots:
y-axis:
x-axis

Back 30

1/v (inverse of velocity)
1/[S] (inverse of substrate

Front 31

what is the defect in Marfans?
what is the normal function of the protein?

Back 31

-fibrillin (chromosome 15), a microfibril
-ubiquitous matrix proteins that provide elastic properties in all Extracellular matrix properties

Front 32

what health problems may children wit sickle cell trait have?

Back 32

1. rhabdomyolysis
2. unilateral hematuria
3. sudden death in heavy excercise

Front 33

symptoms of deficient fructose-1-phosphate aldose activity: (fructose intolerance)

Back 33

1. accumulation of fructose-1-phosphate
2. severe hypoglycemia after eating fructose
hepatic failure, death

Front 34

defect and symptoms of fructsuria:

Back 34

fructose kinase
-benign (UTI, polyuria, polydipsia)

Front 35

disease of alpha-L-iduronidase defect:

Back 35

Hurler (HSM, dwarfism, skeletal abnormalities, menta retardation, corneal clouding)

Front 36

cause of gaucher disease:

Back 36

beta-glucocerebrosidase deficiency:
HSM, glucocerebroside accumulation in phagocytes

Front 37

ribflavin deficiency:

Back 37

glossitis, cheilosis, dermatitis

Front 38

thiamine deficiency:

Back 38

alcoholics, polished rice
-wet beriberi (dilated cardiomyopathy)
-dry beri beri (polyneuritis)
-wernicke-korsakoff (mamillary body degeneration)

Front 39

abetalipoproteinemaia mutatant gene:

Back 39

microsomal triglyceride transfer protein (MTP). this results in extremely low cholesterol and TG levels and absent chylomicrons

Front 40

clinical features of abeta-lipo-proteinemia (MTP):

Back 40

result from defects in absorpion and transport of fat soluble vitamins:
1. Vit E def: hyporeflexia, distal muscle weakness, ataxia, decreased vibratory sensation and proprioception, and night blindness
2. other features: diarrhea, fat malabsorption, failure to thrive, pigmented retinopathy and acanthocytosis

Front 41

treatment for MTP (abetalipoproteinemia):

Back 41

low fat
high calorie diet that are enriched with large supplemental doses of fat-soluble vitamins

Front 42

symptoms of Hartnup disease:

Back 42

diarrhea, red, scaly rash, mild cerebellar ataxia (resembles pellagra 4 Ds")

Front 43

What is the defect and symptoms of Menkes disease?

Back 43

1. mutation in ATP7A leads to copper transport defect and hense abnormally low activity of several copper-dependent enzymes (lysyl oxidase)
2. depigmented, lusterless hair "kinky hair"; facial, ocular, vascular and cerebral manifestations