Genetic Diseases II

Question 1

examples of autosomal recessive disorders

Answer 1

lysosomal storage disease
glycogen storage disease
alkaptonuria

Question 2

characteristics of autosomal recessive disorders

Answer 2

uniform expression
complete penetrance
early onset
proteins show loss of function

Question 3

what does alkaptonuria look like

Answer 3

black blue pigmentation

Question 4

alkaptonuria is a defiency of waht

Answer 4

homogentisic acid oxidase

Question 5

what is binding to collagen in alkaptonuria

Answer 5

homogentisitc acid

Question 6

what does urine look like in alkaptonuria

Answer 6

turns black if allowed to stand and oxidize or if you add an alkali

Question 7

what serious disease can alkaptonuria cause

Answer 7

degenerative arthropathy

Question 8

degenerative arthropathy

Answer 8

like severe osteoarthiritis at an early age

Question 9

what does alkaptonuria look like histologically

Answer 9

yellow-brown

Question 10

what do lysosomal storage disease come from

Answer 10

failure of catabolism of large molecules within lyososmes

Question 11

what are examples of lysosomal storage disease

Answer 11

tay sachs
gaucher
neimann pick
mucopolysaccharidoses

Question 12

how do you treat lysosomal storage disease

Answer 12

enzyme replacement therapy

Question 13

tay sachs is common in what population

Answer 13

ashkenazi jew

Question 14

what is tay sachs caused by

Answer 14

framshift mutation in HexA gene

Question 15

what does muation on HexA gene cause

Answer 15

lack of hexosaminidase A causing accumulation of GM2 ganglioside

Question 16

what is seen in babies with tay sachs

Answer 16

seem normal but develop retardation and blidness, brain enlarges

Question 17

when does death occur in tay sachs

Answer 17

before age 4

Question 18

what does light microscopy show in tay sachs

Answer 18

pale, swollen (ballooned) neurons

Question 19

what is a characteristic feature of tay sachs

Answer 19

cherry red spots

Question 20

what is the most common lysosomal storgae disorder

Answer 20

gaucher

Question 21

gaucher disease is caused by a mutation in what

Answer 21

gene encoding for enzyme beta-glucocerebrosidase on chromosome 1q

Question 22

what is happening in gaucher diesae

Answer 22

you get an accumulation of macrophages and you can’t break down sugars

Question 23

what are guacher cells

Answer 23

huge macrophages that are bloated with glucerebroside

Question 24

where do gaucher cells accumulate

Answer 24

spleen, liver, and bone marrow

Question 25

what do cells affected by gauche rlook like

Answer 25

wrinkled tissue paper/crinkled cigarette paper

Question 26

what is the most common type of guacher

Answer 26

type I

Question 27

type I guacher

Answer 27

adult common in askenazi jews compatitive with long healthy life

Question 28

what are some common symptoms of gaucher

Answer 28

splenohepatomegaly | excruiting bone pain

Question 29

type II guacher

Answer 29

severe | onset in first year of life

Question 30

type III guacher

Answer 30

moderate to severe | onset in childhood

Question 31

how do you test for guacher

Answer 31

bone marrow bipsy and aspiration to look for gaucher cells

Question 32

how can you treat gauchers

Answer 32

imiglucerase

Question 33

how can you treat gauchers

Answer 33

imiglucerase

Question 34

nimann-pick disease is caused by a problem on what chromosome

Answer 34

11

Question 35

type A niemann pick is what type of mutation

Answer 35

missense

Question 36

what does the missense mutation in type A neimann pick cause

Answer 36

severe accumulation of spingomyelin, foamy cyptoplasm with zebra bodies

Question 37

type C neimann pick is caused by

Answer 37

deficieny in cholersterol transport

Question 38

type A and B neimann pick is caused by

Answer 38

defiency in sphingomyelinase

Question 39

what are symptoms of neimann pick type A

Answer 39

neurologic signs splenohepatomegally enlarged lymph nodes

Question 40

whare are symptoms of neimann pick type B

Answer 40

survive into adulthood no CNS involvement splenohepartomegay

Question 41

what is the most common type of niemann pick disease

Answer 41

type C

Question 42

neimann pick type C is caused by a mutation in

Answer 42

NPC1 and NPC2 genes

Question 43

neimann pick type C causes a defect in what

Answer 43

nonenzymatic lipid trasport

Question 44

what are symptoms of neimann pick type C

Answer 44

hydrop fetalis neonatal hepatitis chronic progressive neurological damge

Question 45

what is the childhood presentatio nof neimann pick type C

Answer 45

atazia dystonia psychomotor deterioation

Question 46

what are the disease that disprportionately affect ashkenzai jews

Answer 46

cystic fibrosis gaucher niemann-pick tay sach

Question 47

MPS

Answer 47

defiecnt lysosomal enzymes that degrade mucopolysacchraides

Question 48

MPS 1-H (hurler syndrome)

Answer 48

most severe | defiency of alpha L iduronidase

Question 49

MPS II (hunter syndrome)

Answer 49

milder | defiency of L-iduronidate sulfatase

Question 50

where does MPS acculate

Answer 50

in lysosomes of RES and smooth muscle cells throughout the body

Question 51

Sanfilippo

Answer 51

severe mental retardation, near normal looking

Question 52

Morquio

Answer 52

dwarf, with bad aortic bales and normal IQ

Question 53

how is hunter syndrome passed on

Answer 53

x-linked

Question 54

what is the key sign of MPS

Answer 54

subendothelial arterial deposities - especially in coronary arteries

Question 55

What are teh 3 glycogen storage diseases we need to know

Answer 55

von Gierke Pompe McArdle

Question 56

pompe disease is also called

Answer 56

type II glycogenosis

Question 57

what are problems assocaited with pompe disease

Answer 57

very compromised heart and skeletal muscle progessie cardiomyopathy massive cardiomegaly

Question 58

infantile onset of pompe diseas look like

Answer 58

floppy baby | big tongue

Question 59

von gierke disease

Answer 59

defiency glucose 6 phosphates

Question 60

what are the symptoms of von gierke disease

Answer 60

hepatomegaly hypoglycemia gout convusions

Question 61

mcardle syndrome

Answer 61

defiencent muscle glycogen phosphrylase