exam 2 Dz

Question 1

Pompe’s disease

Answer 1

lysosomal alpha-glucosidase deficiency

Question 2

McArdles dz

Answer 2

Skeletal muscle phosphorylase deficiency

-*would tell patient to NOT preform heavy lifting exercises

Question 3

Cori’s disease

Answer 3

Defect in debranching (transferase) enzyme

tissue biopsy of dextrans

Question 4

Anderson’s disease

Answer 4

Defect in in branching enzyme

Question 5

Hers disease

Answer 5

Liver phosphorylase deficiency

Question 6

N-acetylglutatmate deficiency

Answer 6

Carbmoylglutatmate (activates CPS-I

Question 7

Markers for liver dz

Answer 7

AST and ALT

Question 8

Parkinsons dz

Answer 8

degeneration of sustania nigra, (decreases dopamine)

can treat with L-DOPA

Question 9

GABA

Answer 9

requires B6 (pyridoxal phosphate) deficiency of B6 leads to metabolic defects in brain

Question 10

Huntington’s dz

Answer 10

polyglutamine dz caued by CAG (trinucleotide)

-can lead to dementia

Question 11

Epilepsy and GABA

Answer 11

Prolonged excitation causes epilepsy

Phenobarbital binding to GABA inhibits Action potentials

Question 12

Phenylketonuria (PKU) (defect in phenylalanine metabolism)

Answer 12

Autosomal recessive deficiency of phenylalanine hydroxylase.

• all tyrosine derivatives are blocked.
• all accumulated phenylpyruvate and phenylkeotone are excreted in the urine

Question 13

Alcaptouria

Answer 13

Deficiency in homogentisate oxidase resulting in accumulation of homogentisic acid

• compound is oxidized into a dark brown polymer deposited in joints
• causes arthritis

Question 14

Albinism

Answer 14

Tyrosine is used to synthesize melanin.

• deficiency in tyrosinase
• skin is susceptible to skin cancer

Question 15

Homocystinuria

Answer 15

Cystathionine synthase deficiency

• Vitamin B6 deficiency makes it worse
• results in skeletal abnormalities, thrombosis and mental retardation
• can result in a B12 or methionine synthase deficiency

Question 16

Cystathionuria

Answer 16

gamma-cystathionase deficiency.

-can be blocked by a vitamin B6 deficiency

Question 17

Cystinuria

Answer 17

-defect in membrane transport in dietary cysteine, cysteine accumulates in the urine
(cys in uria) stone in uria = kidney stones

Question 18

Maple syrup urine disease

Answer 18

Deficiency in branched chain keto acid dehydrogenase

• Valine, Isoleucine, leucine
• 1/185,000 causes emesis and severe brain damage
• very prevalent in Lancaster County , PA 1/175
• therapy reduced branched chain aino acid in diet

Question 19

Histidinemia

Answer 19

deficiency of enzyme histidase 1/10,000
histidase converts histidine > urocanate (component of sweat)
-can only be confirmed with skin biopsies

Question 20

Megaloblastic anemia

Answer 20

Folic acid deficiency.

• Red blood cells from the bone marrow are immature
• hypersementation of neutrophils

Question 21

Von Gierke’s disease

Answer 21

Lack of G6Pase
G6P is made but cannot leave the ER > leads to hypoglycemia
-*does not affect muslce

Question 22

Hemolytic anemia

Answer 22

glucose 6-phosphate dehydrogenase deficiency (malaria)

• glutathione requires NADPH
• treated with any “-quines”

Question 23

Lesch Nyhan Syndrome

Answer 23

HGPRT deficiency

• causes mental retardation, self-mutilation and spasticity
• caused by increased levels of PRPP > leading to excess de novo synthesis > increased uric acid
• Kidney failure is the cause of death