disease chart

Question 1

Nieman-Pick

Answer 1

autosomal recessive
Deficiency in Acid shingomyelinase (A-SMase)
Buildup of shingomyelin in lysozomes, bone marrow, CNS, liver and spleen
clinically presents as an enlarged liver, enlarged spleen, neuro defects, cherry red spot on back of retina

Question 2

Cystic Fibrosis

Answer 2

autosomal recessive
a mutation in the CFTR gene (part of the chloride channel)) causes buildup of chloride in the airway. As Cl- increases, Na+ floods into cells to offset (-) which draws H2O out of airway and into cells resulting in dehydrated airway mucus. clinically thickened airway mucus leads to an increased risk of bacterial infection and difficulty breathing

Question 3

cystinuria

Answer 3

autosomal recessive
deficiency in the transporter for dibasic amino acids (such as COAL - cystine, ornithine, arginine, lysine) which causes a build up of these amino acids. specifically a build up of cystine creates cystine crystals in the kidney (large kidney stones). This presents itself as renal cholic

Question 4

Hartnup

Answer 4

autosomal recessive
there is a deficiency in the transporter of nonpolar neutral amino acids which leads to a build up of these nonpolar neutral amino acids in the kidneys and intestines. Clinically presented by failure to thrive, rapid eye movement (nystagmus), ataxia (balance issues), tremors, photosensitivity.