Genetic syndrome mega quiz

Question 1

1000x risk developing skin CA

Answer 1

Xeroderma pigmentosa (albinism is increased risk but not nearly this much) -> DNA repair defect (nucleotide excision repair defect)

Question 2

Alcoholics -> B1 deficiency -> neurologic defects

Answer 2

Pyruvate dehydrogenase deficiency

Question 3

Abnormal collagen type 1 synthesis

Answer 3

Osteogenesis imperfecta (brittle bone disease)

Question 4

Absence of HGPRTase

Answer 4

Lesch-Nyhan syndrome

Question 5

Deficiency of aldolase B

Answer 5

Fructose intolerance

Question 6

Defective excision repair -> Thymidine dimer formation

Answer 6

Xeroderma pigmentosa

Question 7

Deficiency of cystathionine synthase

Answer 7

Homocysteinuria

Question 8

Heinz bodies

Answer 8

Glucose-6-phosphate dehydrogenase deficiency

Question 9

Musty/mousy odor, albinism, mental retardation, eczema

Answer 9

Phenylketouria (PKU)

Question 10

Galactose-1-P uridyltransferase deficiency -> mental retardation, hepatosplenomegally, cataracts

Answer 10

Classic galactosemia

Question 11

Treated by avoiding nutrasweet, increased dietary tyrosine

Answer 11

PKU

Question 12

deficiency of tyrosinase

Answer 12

Albinism

Question 13

Hyperextensible skin, loose joints, bleeding tendency

Answer 13

Ehlers-Danlos syndrome (decreased type 3 collagen)

Question 14

Decreased NADPH due to lack of HMP (hexose monophosphate) enzyme

Answer 14

G6PD deficiency

Question 15

Inherited defect in tubular amino acid transporter

Answer 15

Cysteinuria

Question 16

Treatment is to decrease dietary methionine, increase cystine, and B6

Answer 16

Homocystinuria

Question 17

Deficiency in homogentisic acid oxidase

Answer 17

Alkaptonuria

Question 18

Hyperglycemia, jaundice, cirrhosis

Answer 18

Fructose intolerance

Question 19

Self mutilation, gout, aggression, choreoathetosis

Answer 19

Lesch Nyhan syndrome

Question 20

Blocked degradation of branched chain AAs

Answer 20

Maple syrup urine disease

Question 21

Bloating, cramps, osmotic diarrhea

Answer 21

Lactase deficiency (Lactose intolerance)

Question 22

Tx- acetazolamide to alkalinize the urine

Answer 22

Cysteinuria

Question 23

Deficiency results in a combine B and T cell deficiency

Answer 23

Adenosine deaminase deficiency -> SCID

Question 24

Tx- decreased fructose and sucrose intake

Answer 24

Fructose intolerance

Question 25

Increased intake of ketogenic nutrients

Answer 25

Pyruvate dehydrogenase deficiency

Question 26

Dark brown urine, organs, connective tissue. Benign disease

Answer 26

Alkaptonuria

Question 27

Multiple fractures + blue sclera

Answer 27

Osteogenisis imperfecta

Question 28

Tx- exclude galactose and lactose from the diet

Answer 28

Galactosemia