Biochemistry Diseases- Stella

Front 1

Lesch-Nyan Syndrome

Back 1

X-linked
mutation on HGBRTase which scavenges free bases to be recycled into nucleotides
Urate accumulates

Hint 1

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 2

Scurvy

Back 2

Not hereditary
prolyl hydroxylase does not function to convert proline to hydroxyproline because of Vit C deficiency therefore collagen can't bond properly
proline accumulates

Hint 2

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 3

Sickle Cell

Back 3

Autosomal recessive
mutation in RBC primary structure where h-philic glu is replaced with h-phobic valine- valine wants to be interior and thus sickles the cell
no accumulation

Hint 3

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 4

Classic Creutzfeld-Jakub disease

Back 4

85% classic, 15%hereditary
prion disease- non-transmissable spongiform encephalopathy due to spontaneous mutation of prion
accum of misfolded prion proteins

Hint 4

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 5

Mad cow (vCJD, scrapie)

Back 5

not hereditary
transmissable spongiform encephalopathy
accum. of misfolded prion proteins

Hint 5

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 6

Gerstmann-straussler-scheinker syndrome

Back 6

Hereditary
Transmissable spongiform encephalopathy
accum misfolded proteins

Hint 6

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 7

Fatal Familial insomnia

Back 7

Hereditary
Transmissable Spongiform Encephalopathy
accum of misfolded prion proteins

Hint 7

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 8

Kuru

Back 8

Cannibals
Transmissable Spongiform Encephalopathy from eating dead relatives' brains in New Guinea
accum of misfolded prion proteins

Hint 8

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 9

Alzheimers

Back 9

Both Hereditary(AB42) and not(AB40)
Accum of amyloid plaques due to "bad cut" of APP via beta secretase, also gamma secretase, reactive oxygenated species, hyperphosphorylated Tau and more...
accum of Amyloid

Hint 9

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 10

I-Cell

Back 10

autosomal recessive
UDP N-acetylglucosaminyl-1-phophotranferase (adds M6P to proteins destined for degradation)-->lysosomal storage disorder
accumulation of GAGs and glycolipids

Hint 10

Hereditary?
Mutation/Defect/Enzyme?
what accumulates?

Front 11

Tay Sachs

Back 11

+autosomal recessive
+mut on HEXA gene (chromo 15) causes defect in hexosaminidase A
+accum of GM2 ganglioside

Hint 11

1. Hereditary?
2. enzyme/defect/mutation?
3. Accumulation?

Front 12

Sandhoff

Back 12

+hereditary
+hexosamidase A and B defect
+accum of globoside

Hint 12

1. Hereditary?
2. enzyme/defect/mutation?
3. Accumulation?

Front 13

Fabry's disease

Back 13

+hereditary
+mutation of alpha-galactosidase A
+accum of ceramid trihexoside

Hint 13

1. Hereditary?
2. enzyme/defect/mutation?
3. Accumulation?

Front 14

Gaucher's

Back 14

+autosomal recessive (Ashkenazi Jews)
+mutation of beta glucocerebrosidase
+accum of glucocerebroside

**very common**

Hint 14

1. Hereditary?
2. enzyme/defect/mutation?
3. Accumulation?

Front 15

Neiman-Picks

Back 15

+autosomal recessive
+mutation in sphingomyelinase
+accum of sphingomyelin

Hint 15

1. Hereditary?
2. enzyme/defect/mutation?
3. Accumulation?

Front 16

Farber's disease

Back 16

+autosomal recessive
+mutationin ceramidase
+accumulation of ceramide

Hint 16

1. Hereditary?
2. enzyme/defect/mutation?
3. Accumulation?

Front 17

Name the sphingolipidoses diseases and what they all have in common.

Back 17

+lysosomal storage diseases, and all autosomal recessive
Tay Sachs
Farbers
Fabrys
Neiman-Picks
Gauchers
Sandhoffs

Front 18

Name all the prion diseases and what's in common.

Back 18

CJD, vCJD/scrapie/mad cow, kuru, fatal familial insomnia, Gerstmann-straussler-scheinker

+all result in accumulation of misfolded prion proteins
+CJD is the only non-transmissable spongiform encephalopathy

Front 19

BeriBeri

Back 19

+B1 deficiency
+accum of pyruvate, citrate, lactate a-ketoglutarate, reduced acetylcholine synthesis

Hint 19

"I cannot, I cannot"
Rx=IV thiamine

Front 20

B vitamins, name 'em

Back 20

The rich never pay paparazzi but fight cameras:
1-Thiamin
2-riboflavin
3-niacin
5-pantothenic
6-pyridoxine
7-biotin
9-folic acid
12-cobalamin

Front 21

Wernicles encephalopathy

Back 21

+B1 deficiency (TPP)
+build up of lactate, pyruvate, citrate, a-ketoglutarate

Rx=IV thiamin

Front 22

Korsokoff's syndrome

Back 22

+B1 deficiency (TPP)
+build up of lactate, pyruvate, a-ketoglutarate, citrate

Front 23

Wernicle-Korsokoffs

Back 23

+B1 deficiency (TPP)
+build up of lactate, pyruvate, a-ketoglutarate, citrate

Front 24

Cheliosis, seborrheic dermatitis, inflamed tongue, sensitive to light

Back 24

+riboflavin deficiency affecting redox reactions in ETC
+no accum

Front 25

Pellagra

Back 25

+niacin deficiency affecting NAD+ redox reactions in ETC

**B3's got 3D's Dermatitis, depression diarrhea**

Front 26

pyridoxine deficiency

Back 26

+pyridoxine deficiency causes difficulty in transferring shit to aa's

(low yield, imo)

Front 27

pantothenoic acid deficiency

Back 27

+CoA deficiency- reduces efficiency of acyl in TCA

(low yield)

Front 28

biotin deficiency

Back 28

+carboxy group transfers and ATP carboxylation is messed up

Front 29

Folic acid deficiency

Back 29

affects one carbon transfer thymine synthesis

Front 30

Cobalamin deficiency

Back 30

5' deoxyadenosyl cobalamin group usually transfers intramolecular methyl group

Front 31

Fructose malabsorption

Back 31

fructose not absorbed-and bacteria in colon breaks down into Co2, lactic acid, methane and C2

Front 32

Hereditary Fructose intolerence

Back 32

+absence or low levels of aldolase B (used for degradation of dermatan and haparan sulfate)
+accumulation of dermatan and heparan sulfate.

Front 33

galactosemia

Back 33

+autosomal recessive
+mut. on chromo 9 causes galactose to be in the blood


*rx-avoid milk

Front 34

Von gierkes

Back 34

+autosomal recessive
+lack of G6Pase--> glycogen storage issues
+G6P builds up-> body shifts to pentose pathway-> too much ribose 5-P, degradation of purines, accumulation of uric acid, GOUT!!!
+glycogen in liver and blood lactate build up as well

Front 35

Pompe's

Back 35

+autosomal recessive
+inborn lack of alpha 1,4 glucosidase (cleaves 1,4 and 1,6)
+accum glycogen in lysosomes

*no known Rx*

Front 36

Cori's disease

Back 36

+autosomal recessive
+defect in debranching enzyme alpha 1,6, glucosidase, but gluconeogenesis is intact
+accum of glycogen

**milder von gierkes**

Front 37

McArdle's disease

Back 37

+unk
+defect in muscle glycogen phosphorylase
+accum of glycogen in muscles

Front 38

G6P DH deficiency

Back 38

+lack of enzyme causes Pentose shunt to not produce enough NADPH, so glutathione (GSH) cannot be reverted from its disulfide bridge version (GSSG) to its active form that reduces reactive oxygen species.
+build up of ROS

Front 39

Hurler's syndrome

Back 39

+autosomal recessive
+alpha-L-iduronidase (lysosomal hydrolases) involved in the degradation of dermatan and heparan sulfate

Front 40

Hunter's syndrome

Back 40

+autosomal recessive
+defect of iduronate sulfatase (lysosomal hydrolase) that is involved in the degradation of dermatan and heparan sulfate