Biochemistry

Question 1

one of the major causes of autosomal recessive SCID; excess ATP and dATP feeds back to inhibit ribonucleotide reductase and prevents DNA synthesis, decreasing lymphocyte count

Answer 1

adenosine deaminase deficiency

Question 2

intellectual disability, self-mutilation, aggression, hyperuricemia, gout, dystonia

Answer 2

Lesch-Nyhan syndrome; defective purine salvage because absent HGPRT

Question 3

mutation affecting non homologous end joining

Answer 3

ataxia telangiectasia

Question 4

nucleotide excision repair defective

Answer 4

xeroderma pigmentosum

Question 5

failure of Golgi to phosphorylate mannose residues causing proteins to be secreted extracellularly instead of trafficking to lysosome

Answer 5

I-cell disease

Question 6

coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes

Answer 6

I-cell disease

Question 7

type I collagen

Answer 7

bone, skin, tendon

Question 8

type II collagen

Answer 8

cartilage, vitreous body, nucleus pulposus

Question 9

type III collagen

Answer 9

reticulin - blood vessels

Question 10

type IV collagen

Answer 10

basement membrane, lens

Question 11

hyper extensible skin, tendency to bleed, hyper mobile joints, berry aneurysms, organ rupture

Answer 11

Ehlers-Danlos; faulty collagen synthesis

Question 12

brittle, kinky hair; growth retardation; hypotonia

impaired copper absorption and transport, decreased lysyl oxidase activity

Answer 12

Menkes disease

Question 13

enlarged testes, long face with large jaw, large everted ears, autism, mitral valve prolapse

Answer 13

Fragile X; CGC repeat

Question 14

rocker bottom feet, small jaw (micrognathia), low set ears, clenched hands, congenital heart disease

Answer 14

Edwards, trisomy 18

Question 15

rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease

Answer 15

Patau, trisomy 13

Question 16

microcephaly, intellectual disability, high-pitched crying/mewing, epicanthal folds, VSD

Answer 16

cri-du-chat; micro deletion of short arm of chromosome 5

Question 17

elfin facies, intellectual disability, hypercalcemia (inc sensitivity to vitamin D), well developed verbal skills, no stranger danger

Answer 17

williams syndrome, micro deletion of long arm of chromosome 7

Question 18

cleft palate, abnormal facies, thymic aplasia, cardiac defects, parathyroid aplasia

Answer 18

microdeletion 22q11; DiGeorge or VCFS

Question 19

night blindness, dry scaly skin, alopecia, corneal degeneration, immune suppression

Answer 19

vitamin A deficiency

Question 20

arthralgia, scaliness, alopecia, cerebral edema, pseudotumor cerebri, teratogen

Answer 20

vitamin A excess

Question 21

confusion, ophthalmoplegia, ataxia, confabulation, personality change, memory loss

Answer 21

Wernicke-Korsakoff, B1, thiamine deficiency

Question 22

polyneuritis, symmetrical muscle wasting

Answer 22

dry beriberi, B1, thiamine deficiency

Question 23

high-output cardiac failure, dilated cardiomyopathy, edema

Answer 23

wet beriberi, B1, thiamine deficiency

Question 24

cheilosis (inflammation of lips, scaling fissures at corner of mouth), corneal vascularization

Answer 24

B2, riboflavin deficiency

Question 25

diarrhea, dementia, dermatitis

Answer 25

B3, niacin deficiency

Question 26

conculsions, hyperirritability, peripheral neuropathy, sideroblastic anemia

Answer 26

B6, pyridoxine deficiency

Question 27

malnutrition, edema, fatty liver, liver malfunction

Answer 27

kwashiorkor, protein malnutrition