Diseases/Disorders

Question 1

Vitamin D Defeciency

Answer 1

Rickets (kids)
Osteomalacia (adults)
Hypocalcemic tetany due to hypocalcemia (active vitamin D increases blood Ca2+ levels)

Question 2

Scurvy

Answer 2

Vitamin C deficiency; cofactor for lysyl hydroxylase, which forms collagen

Question 3

Niemann-Pick

Answer 3

Acid sphingomylenase deficiency; build up of sphinomyelin in lysosomes, spleen, BM, CNS, liver; causes hepatosplenomegaly and neurological impairments

Question 4

Cystic Fibrosis

Answer 4

mutation in CFTR gene (Cl- transporter); build up of Cl- in cell; brings in Na+ forming a salt; water follows; difficulty breathing; increased bacterial infection

Question 5

Cystinuria

Answer 5

Deficiency in dibasic AA transporter (cys, arg, lys, ornithine); build up of cystine crystals and renal stones; causes renal chlorine and abdominal pain

Question 6

Hartnup

Answer 6

Deficiency in nonpolar/neutral AA transporter; buildup of these AA in kidney and intestine; causes failure to thrive, nistagmus, ataxia, tremors, photosensitivity

Question 7

Spur cell anemia

Answer 7

Increase of cholesterol in RBC, which decreases fluidity; therefore, lyses; associated with cirrhosis