Complex Carbohydrates Diseases

Front 1

what is the deficiency in Hurler Syndrome?

Back 1

alpha- liduronidase

mneumonic:

He HURLed and LIeD!

Front 2

what is the most severe form of MPS I?

Back 2

Hurler syndrome

Front 3

what are the symptoms of hurler syndrome?

Back 3

corneal clouding, mental retardation, dwarfing, coarse facial features, upper airway obstruction

Front 4

deposition of dermatan sulate and heparan sulfate in coronary artery lead to what in Hurler's syndrome?

Back 4

ischemia and early death

Front 5

what type of transplant is needed before 18 months when the patient has Hurler's syndrome?

Back 5

bone marrow or cord blood

Front 6

what three syndromes affect the degradation of heparan sulfate and dermatan sulfate?

Back 6

hurler's, hunter's, and sly

Front 7

what is the deficiency in Hunter syndrome?

Back 7

iduronate sulfatase

mneumonic:

Idurona Hunt!
(If you say it funny it kinda sounds like "I donwanna hunt")

Front 8

how is hunter's syndrome genetically passed?

Back 8

x-linked

Front 9

what are some of the symptoms of hunter's syndrome?

Back 9

physical deformity and mental retardation which can from mild to severe

Front 10

what is the deficiency in sly syndrome?

Back 10

b-glucuronidase deficiency

mneumonic:

It's SLY to bait (beta) with GLUe

Front 11

what are the symptoms of sly syndrome?

Back 11

hepatosplenomegaly, skeletal deformity, short stature, corneal clouding, mental deficiency

Front 12

what are the four deficiencies of each type of san filippo syndrome? (A-D)

Back 12

A: heparan sulfamidase
B: N-acetyl glucosaminidase
C: glucosamine-N-acetyltransferase
D: N-acetylglucosamine-6-sulfatase

mneumonics:

Has Nummy Guac for Supper
(s is the letter that distinguished type D from type B)

Front 13

what are the symptoms of san filippo syndrome?

Back 13

severe nervous disorders, mental retardation

Front 14

what is the deficiency in I-cell disease?

Back 14

ability to phosphorylate mannose

mneumonic:

I-C (see) phony man-noses! (like nose jobs? lol)

Front 15

what are the symptoms of I-cell disease?

Back 15

skeletal abnormalities, restricted joint movement, coarse facial features, and sever psychomoto impairment

Front 16

which disease kills their victim by age 8?

Back 16

I-cell disease

Front 17

what accumulates in gangliosidosis?

Back 17

accumulation of gangliosides (GM1) and keratan sulfate

Front 18

what are the symptoms of gangliosidosis?

Back 18

neurologic deterioration, hepatosplenomegaly, skeletal deformaties, cherry red macula (spot by fovea)

Front 19

what is the deficient enzyme in gangliosidosis?

Back 19

B-galactisidase

Front 20

what is the deficient enzyme in tay-sachs disease?

Back 20

B-hexosamindase A

Front 21

what accumulates in tay-sachs disease?

Back 21

gangliosides (GM2)

Front 22

what are the symptoms of tay-sachs?

Back 22

rapid and progressive neurodegeneration, blindness, cherry red macula, muscle weakness and seizures

Front 23

what is the deficient enzyme in sandhoff's disease?

Back 23

B- hexosaminidase A and B

Front 24

what accumulates in sandhoff's disease?

Back 24

GM2 and globosides

Front 25

what other disease shares the same symptoms as sandhoff's disease?

Back 25

tay-sachs

Front 26

what is the deficient enzyme in fabry disease?

Back 26

alpha galactosidase

Front 27

what is the accumulation in fabry disease?

Back 27

globosides

Front 28

what are the symptoms of fabry disease?

Back 28

reddish-purple skin rash, kidney and heart failure, burning pain in lower extremities

Front 29

what is the deficient enzyme in gaucher's disease?

Back 29

glucocerebrosidase

Front 30

what accumulates in gaucher's disease?

Back 30

glucocerebrosides

Front 31

what are the symptoms of gaucher's disease?

Back 31

hepatosplenomegaly, osteoporosis of long bones, CNS involvement in rare infantile and juvenile forms

Front 32

what is the most common lysosomal storage disease?

Back 32

Gaucher's

Front 33

what is the deficient enzyme in Metachromatic leukodystrophy?

Back 33

arylsulfatase A

Front 34

what accumulates in metachromatic leukodystrophy?

Back 34

sulfatides

Front 35

what are the symptoms of metchromatic leukodystrophy?

Back 35

cognitive deteriration, demyelination, progressive paralysis, dementia in adult form, nerves stain yellowish-brown with cresyl violet

Front 36

what is the deficient enzyme in krabbe disease?

Back 36

galactocerebrosidase

Front 37

what accumulates in krabbe disease?

Back 37

galactocerebrosides

Front 38

what are the symptoms of krabbe disease?

Back 38

mental and motor deterioration, blindness and deafness, near total loss of myelin, globoid bodies in white matter of brain (macrophages)

Front 39

what is the deficient enzyme in Classic galactosemia?

Back 39

uridyltransferase

mneuomic:

U Ride to Class Gallantly

Front 40

how is classic galactosemia genetically passed?

Back 40

autosomal recessive

Front 41

what accumulates in classic galactosemia?

Back 41

galactose 1-p and galacitol

Front 42

what are the symptoms of classic galactosemia?

Back 42

galactosuria, vomiting, diarrhea, jaundice, liver damage, sever mental retardation and ctaracts

Front 43

what in utero test is used to early diagnosis classic galactosemia?

Back 43

chorionic villi sampling

Front 44

what is the treatment for classic galactosemia?

Back 44

rapid removal of lactose from their diet

Front 45

what type of inheritance is galactokinase deficiency?

Back 45

rare autosomal recessive

Front 46

what does galactokinase deficiency cause elevation of?

Back 46

galactose in the blood and urine (galactosuria)

Front 47

where is aldose reductase located in the body?

Back 47

liver, kidner retina, lens, nerve tissues, seminal vesicles, ovaries

Front 48

what ailment does elevated galacitol cause?

Back 48

cataracts

Front 49

what is lacking in essential fructosuria?

Back 49

fructokinase

Front 50

what is the mode of inheritance for essential fructosuria?

Back 50

autosomal recessive

Front 51

where does fructose accumulate in essential fructosuria?

Back 51

urine

Front 52

what is the mode of inheritance of hereditary fructose intolerance?

Back 52

autosomal recessive

Front 53

what enzyme is absent in hereditary fructose intolerance? what does the absent enzyme cause (besides hereditary fructose intolerance)?

Back 53

aldolase B; intracellular trapping of fructose 1-p and low ATP

Front 54

what are the symptoms of hereditary fructose intolerance?

Back 54

sever hypoglycemia, vomiting, jaundine, hemorrhage, hepatomegaly, lacticacidemia hyperuricemia, hepatic failure and death

Front 55

what is the therapy that can be done on patients with hereditary fructose intolerance?

Back 55

rapid detection and removal of fructose and sucrose from the diet

Front 56

what does hyperglycemia cause? (especially in the lens, retina, nerve and kidney cells)

Back 56

excess in sorbitol

Front 57

why is there swelling associated with uncontrolled diabetes?

Back 57

accumulation of sorbitol attracts lots of water which leads to complications

Front 58

what are the complications of uncontrolled diabetes?

Back 58

cataracts, retinopathy, nephropathy and peripheral neuropathy

Front 59

what results as a result of carbohydrate sulfotransferase 6 deficiency?

Back 59

macular cornal dystrophy

Front 60

what is undersulfated in carbohydrate sulfotransferase 6 deficiency?

Back 60

keratan sulfate