Scientific Foundations of Medicine Clinical Integration

Question 1

What is wrong in patients that suffer from Hartnups disease?

Answer 1

Nonpolar amino acid transporters are defective (mainly tryptophan)

Leads to photosensitivity

Question 2

What is wrong in patients suffering from Maple Syrup Urine Disease?

What is the treatment?

What is the main symptom?

Answer 2

Branched chain ketoacid dehhdrogenase deficiency- affects branched chain amino acid transport

Treatment is a low protein diet and add Thiamine B1 to their diet

Sxs are sweet urine

Question 3

What is wrong with patients suffering from Phenylketonuria (PKU) deficiency?
What is the treatment?

What is the main symptom?

Answer 3

Phenylalanine Hydroxylase Deficiency

Tx is a low protein diet

Sxs are a musty smelling urine

Question 4

What is wrong in patients suffering from cataracts?

Answer 4

Deficiency in Galactokinase, which is used in the conevrsion of galactose to galactose-1-phosphate

Question 5

What is wrong in patients suffering from jaundice, feeding difficulties, and a failure to thrive?

Answer 5

GALT (Galactose-1-phosphate uridyl transferase), which causes the failure to metabolize galactose and lactose into glucose

Leads to a backup of galactose

Question 6

What is wrong in patients suffering from Galactosemia?

Answer 6

Build up of Galactitol in patients, which causes cataracts

Question 7

What is wrong in patients suffering from Kwashiorkor?

What are the symptoms for these patients?

Answer 7

Severe protein deficiency

Leads to distended abdomen
Enlarged fatty liver

Question 8

What is wrong in patients suffering from Marasmus?

Answer 8

Protein and Calorie deficiency