Chapter 35

Question 1

Describe Hartnup disease (include causes, symptoms and treatment)

Answer 1

Poor absorption of nonpolar amino acids, particularly tryptophan, precursor for serotonin, melatonin, and niacin.
Causes:
autosomal recessive mutation in SLC6A19 gene that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine.
Symptoms:
Photosensitivity
intermittent ataxia (coordination and balance)
Nystagmus (involuntary movement of the eye)
tremor
Treatment:
High protein diet, avoid sun exposure

Question 2

Describe Kwashiorkor (include causes, symptoms and treatment)

Answer 2

Protein and mineral deficiency, yet normal amount of calories in the diet
Causes:
Dietary protein deficiency
Symptoms:
pitting edema (swelling of the ankles and feet)
distended abdomen
enlarged liver with fatty infiltrates
loss of teeth
Treatment:
Begin by introducing small but frequent rations
Increase protein and mineral content of food over several weeks.
Continue until body mass is 85% of normal

Question 3

Describe cystinuria (include causes, symptoms and treatment)

Answer 3

Disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder
Causes:
Autosomal recessive mutations in the SLC3A1 and SLC7A9 genes.
Amino acid transport proteins
Cystine, lysine, ornithine, arginine reabsorption into blood is reduced and concentrate in the urine
Symptoms:
Asymptomatic unless precipitates Cys forms stones
Stone formation: Nausea/vomiting, Chronic pain, Hematuria, etc.
Treatment:
Adequate hydration, citrate supplementation, dietary reduction of Met, etc.

Question 4

Describe cystic fibrosis (include causes, symptoms and treatment)

Answer 4

Genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine that causes thickening of sweat, digestive fluid and mucus secretions
Causes:
Autosomal recessive mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR): ion transporter
Most (90%) caused by deletion of Phe at position 508
Over 300 other mutation causing CF have been reported
Thick mucus, not able to get rid of all the salt
Symptoms:
salty-tasting skin, poor growth, and poor weight gain, accumulation of thick, sticky mucus, frequent chest infections, and coughing or shortness of breath
Treatment:
Management of symptoms, BiPAP, transplantation

Question 5

what 2 proteases are the only ones what don’t cleave exclusively at the carboxy side of a protein?

Answer 5

amino peptidase- grabs onto whatever and cleaves

carboxypeptidase A- cleaves from amino side

Question 6

What amino acid is very specific, looks for soemthing large with a negative charge?

Answer 6

trypsin