Disease Table

Question 1

Niemann-Pick

Answer 1

Deficiency: Acid Sphingomylenase (SM)
Buildup: SM in lysosome, bone marrow, ONS, liver
Clinical Features: Big liver, big spleen, neurological deficits, cherry red spot on back of retina

Question 2

Cystic Fibrosis

Answer 2

Deficiency: mutation in CFTR gene (chloride channel)
Buildup: Cl-
Clinical Features: difficulty breathing, increase risk of bacterial infection, salty sweat

Question 3

Cystinuria

Answer 3

Deficiency: Transporter for dibasic amino acid (cysteine, ornithine, arginine, lysine: COAL)
Buildup: cysteine crystals and renal stones
Clinical Features: abdominal pain (renal colic)

Question 4

Hartnup

Answer 4

Deficiency: transporter for nonpolar, neutral AA
Buildup: nonpolar, neutral amino acids–kidney & intestine
Clinical Features: failure to thrive (don’t reach certain milestones), nystagmus (rapid eye movement), ataxia, (difficulty w balance) tremors, photosensitivity

Question 5

Fanconi- Bickel

Answer 5

deficiency: mutation in Glut2
buildup: cannot take up glucose, fructose, galactose
clinical manifestations: failure to thrive, big liver, kidney dysfunction, bloating

Question 6

Galactosemia

Answer 6

deficiency: glucose 1P uridyltransferase (GALT)
buildup: calacitol
clinical manifestations: failure to thrive, sepsis, bleeding