Biochemistry Disease With Hints

Front 1

Inability to beakdown carbohydrate, therefore not absorbed in the intestine

Back 1

Lactase enzyme deficiency

Lactose intolerance

Hint 1

accumulation in gut which causes bacteria to proliferate

Front 2

Defect in glycoslyating enzyme which results in proteins marked for lysosome not being tagged properly

Back 2

I-Cell disease

Hint 2

lysosome function is lost (degradative enzymes); build up of unwanted products creates inclusion bodies

Front 3

Inability to breakdown glucose for energy

Back 3

Pyruvate kinase

Hint 3

Hemolytic anemia (swelling, lysis of RBC)

Front 4

Decreased pyruvate oxidation and a-ketoglutarate dehydrogenase activity

Back 4

Thiamine deficiency (TPP)/ Beriberry

Hint 4

Loss of neuromuscular function, mental confusion, depression, ataxia, elevated serum pyruvate

Front 5

Defective catalytic or regulatory subunit

Back 5

Pyruvate dehydrogenase complex

Hint 5

Elevated serum pyruvate, lactate, alanine, and chronic lactic acidosis

Front 6

Neurological disorders & encephalomegaly.

Elevated succinate, a-kg, citrate and malate in urine

Back 6

Fumarase deficiency

Front 7

Infantile lactic acidosis, childhood psychomotor retardation

Back 7

a-ketoglutarate dehydrogenase

Front 8

Low NADPH concentrations

Back 8

Glucose-6-phosphate dehydrogenase defect

** most common defect in man**

Hint 8

Hemolytic anemia (swelling, lysis of RBC) due to inability of RBC's to utilize glutathione reductase and reduce free radicals

Front 9

Cannot form Fructose-1-P so no glucose can form

Back 9

Fructosuria

Fructokinase deficiency

Hint 9

Build up of fructose in blood and urine after fructose intake

Front 10

Buildup of fructose-1-P after fructose intake, inhibits gluconeogenesis and glycogenolysis

Back 10

Fructose intolerance - aldolase B

Hint 10

Hypoglycemia and lactic acidosis

More severe than fructosuria

Front 11

Accumulation of galactose-1-P in tissue

Back 11

Classical Galactosemia

Deficiency in Galactosyl-1-P uridylyltransferase

Hint 11

Appearance of glactose in blood and urine

Causes severe neurological defects & liver damage

Front 12

Build up of galactose.

Converted to galactitol in the lens of the eye

Back 12

Non-Classical Galactosemia

Galactokinase deficiency

Hint 12

Galactitol causes water and other molecules to precipitate from lens.

Causes cataract formation

Front 13

Inability to make multiple branches of glycogen, very long outer branches.

No ability to cleave at 7th residue

Back 13

Type IV - Andersons

Branching enzyme deficiency

Hint 13

Progresive liver cirrhosis

Results in death at < age 2

Front 14

Buildup of glucose-6-P

Back 14

Type I - Von Gierke's

Deficiecy - glucose-6-phosphotase

Hint 14

enlarged liver and kidney, growth failure, fasting hypoglycemia, lactic acidemia

Front 15

Build up of alpha 1-6 branches because they cannot be cleaved

Back 15

Type III - Cori's

Deficiency : debranching enzyme

Hint 15

Similar to type I, but milder

Front 16

Inability to breakdown glycogen in muscle/liver

Moderate increase in normal structure

Back 16

Type V - McArdle's

Deficiency :Muscle phosphorylase

Hint 16

Exercise induced muscle cramps, progressive muscle weakness

Front 17

Increased amounts of glycogen in liver because it cannot be degraded

Back 17

Type VI - Her's

Deficiency : liver phosphorylase

Hint 17

similar to type I, but milder

Front 18

Glycogen accumulates in lysosomes.

Cardiomegaly occurs at early age.

Death from heart failure before age 2.

Back 18

Type II - Pompke's / Lysosomal alpha 1,4-glucosidase

Hint 18

Increased amount of glycogen in all organs.

Normal structure.

Front 19

- Imparied reproduction
- Severe dermatitis
- Renal failure
- High skin permeability to water

Back 19

Essential Fatty Acid deficiency

Hint 19

Lack of arachadonic, linoleic and alpha-linoleic acids

Front 20

Phytol accumulation.


- Neurologic malfucntion
- Tremors
- Unstead walking
- Poor night vision
- Constricted pupils

Back 20

Refsum's disease

Hint 20

Cannot oxidize phytol (long chain fatty acid from plants)

End up being hypoketonic and hypoglycemic, like extreme starvation.

Front 21

- Excessive oiliness/dandruff
- Scales of seborrhea may be dry or greasy and yellow in color.
- Scaly bumps may coalese to form large plaques or patches.

Back 21

Seborrheic dermatitis

Hint 21

Biotin deficiency (cofactor for CBX, pyruvate carboxylase and propinoyl carboxylase (odd chain FA oxidation)

Tx: Vitamin B supplementation

Front 22

Recurrent attack of fasting hypoketonia and hypoglycemia

Back 22

Carnitine Palmitoyl Transferase 1 (CPT-1)

Hint 22

Cannot convert fatty acyl CoA into fatty acyl carnithine.

Fatty Acyl CoA cannot cross the inner membrane of mitochondria without this transferase reaction.

Tx: avoidance of fasting and exercise. Low fat diet enriched with small and medium chain triglycerides and carnitine.

Front 23

Recurrent attack of fasting hypoketonia and hypoglycemia associated with cardiac damage that promotes sudden death before age 1.

Brain and kidney dysorganogenesis.

Back 23

Carnitine Palmitoyl Transferase 2 (CPT-2)

Hint 23

Fatty Acyl Carnitine cannot be reconverted into fatty acyl CoA.

Almost always lethal during the first month of life.

Front 24

No synthesis of plasmalogens. Early death.

Back 24

Zellweger syndrome

Hint 24

Plasmalogens are found in platelets, cell membranes of muscle and myelin sheaths of nerve fibers.

In platelets their hydrolysis produces aldehydes which appear to play a significant part in the coagulation function of those cells.

Front 25

- Mental retardation
- Blindness
- Cherry red spot on macula
- Death between second and third year

Back 25

Tay-Sachs disease

Hint 25

Ganglioside Gm2 is not hydrolyzed by hexosaminidase A in lysosome.

Front 26

- Liver and spleen enlargement
- Erosion of long bones and plevis
- Mental retardation in infantile form only

Back 26

Gaucher's disease

Hint 26

Glucocerebroside in lysosome is not hydrolyzed by glucocerebrosidase.

Front 27

- Skin rash
- Kidney failure
- Pains in lower extremities

Back 27

Farby's disease

Hint 27

Ceramide trihexoside in lysosome is not hydrolyzed by alpha-Galactosidase

Front 28

- Liver and spleen enlargement
- Mental retardation

Back 28

Niemann-Pick disease

Hint 28

Accumulation of sphingomyelin in lysosome due to deficiency in sphingomyelinase.

Front 29

Build up of LDL

Back 29

Familial hypercholesterolemia

Hint 29

Autosomal Dominant mutation in B100 LDL receptor. May cause:

1. No receptors to be made.
2. Mutant receptors that fail to bind LDL
3. Mutant receptors that fail to internalize.

Front 30

Can internalize LDL and cholesterol esters will collect in lysosome.

Cholesterol esters cannot be hydrolyzed, thus free cholesterol is not available to cell.

Back 30

Wollman's Disease

Hint 30

Lack of functional lysosomal acid lipase (LPL)

Front 31

Plaques form in walls of major arteries and impede blood flow

Back 31

Atherosclerosis

Hint 31

- LDL gets trapped in the endothelial cells of the arterial wall.
- Macrophages bind to and internalize LDL
- Macrophages continue to gobble up LDL and eventually bloat into foam cells, the earliest indicator of atherosclerosis.

Front 32

Urine contains ketones.

Constant stimulation of body being in starvation state.

Glucagon takes over, causing active gluconeogenesis and glycogenolysis.

Back 32

Type I diabetes

Hint 32

The body doesn't recognize glucose in the blood.

Activates gluconeogenesis, where acetyl CoA is converted into ketone bodies

Front 33

Early symptoms: fatigue, irritability, lethargy

Progression:
- Large protuberant belly
- Growth failure
- Decreased immunity
- Decreased muscle mass
- Edema

Late stages
- Shock
- Coma

Back 33

Kwashiorkor

Hint 33

Inadequate protein intake, usually caused by malnutrition.

Fatty liver and absence of clotting factors.
- Fatty liver will not be able to generate VLDL and take the fat away from the liver.

Front 34

Pellagra-like symptoms
- Dermatitis
- Diarrhea
- Dementia

Neutral hyperaminoaciduria

Back 34

Hartnup Disease

Hint 34

Inability of intestinal or renal cells to re/absorb neutral amino acids, most of which are also all essential:

- Phe
- Ile
- Leu
- Thr
- Trp
- Val

Front 35

Precipitation of cystine - forms kidney stones which can block urinary tract.

Back 35

Cystinuria

Hint 35

Inability of intestinal or renal cells to re/absorb basic amino acids and cystine (Cys-Cys)

- Cystine
- Ornithine
- Arginine
- Lysine

Front 36

Other defective transporters

Back 36

- Acidic amino acids (Aspartate, Glutamate)

- Imino acid (proline

- Di- and tri-peptides

Front 37

Build up of xanthurenic acid (due to degradation of Trp) in urine

- Dermatitis
- Microcytic hypochromic anemia
- weakness
- Irritability
- Convulsions

Back 37

Vitamin B6 deficiency (pyridoxine)

Hint 37

Not ale to synthesize heme from glycine and succinyl CoA

Decreased aility to decarboxylate amino acids to form neurotransmitters (especially GABA)

Front 38

Clinical symptoms most severe in reduced carbomoyl synthetase I levels.

Complete absense of any one of the urea cycle enymes will result in death shortly after birth

Hereditary

Back 38

Urea Cycle Deficits

Hint 38

Most severe:
CPSI deficiency

Most common:
Ornithine transcarboamoyltransferase deficiency

Causes a build up of orotic acid (an intermediate in the pyrimidine biosynthesis pathway)