amino acid diseases 3-14 Sarge

Question 1

Physical Charateristics of people with cistinuria

Answer 1

cictine stones form in the bladder and kidneys

Question 2

What molecule causes issues in cistinuria and how does it accumulate

Answer 2

cistine- the product if two cysteines. cystine is normally filtered through the glomerulus and then re-absorbed by a transporter in the proximal tubule, but the transporter is not functional.

Question 3

What is the function of the proteins mutated in cistinuria

Answer 3

heterodimer transporters of cistine

Question 4

3 means by which citinuria is treated

Answer 4

hydration, penicillamine (reduces cystine to cisteines), extracorporeal shock wave lithotripsy (ultrasound)

Question 5

symptoms of PKU

Answer 5

mental retardation, fair skin, increased ketoacids (phenylpyruvic acid

Question 6

main defect of PKU, inheritance

Answer 6

phenylalanine hydroxylase or dihydropterin reductase(autosomal recessive) phenylalanine can not be used to make tyrosine

Question 7

How is PKU diagnosed

Answer 7

test phenylalanine levels in newborns’ blood (elevated)

Question 8

Symptoms of Maple Syrup Urine Disease, inheritance

Answer 8

sweet-smelling pee, mental retardation, autosomal recessive

Question 9

Defect in MSUD

Answer 9

high levels of branched amino chains (valine, isoleucine, leucine)- mutations in the 4 proteins that make up the branched chain amino ketoacid dehydrogenase units

Question 10

How is MSUD treated

Answer 10

restrict branched chain amino acids in diet, thiamine supplement to use as a cofactor for the dehydrogenase

Question 11

symptoms of urea cycle diseases

Answer 11

ataxia, lethargy, death

Question 12

Most common urea cycle disorder

Answer 12

ornithine transcarbamoylase deficiency

Question 13

treatment for urea cycle disorders

Answer 13

low protein diet and injection with nitrogen-scavenging compounds, LIVER TRANSPLANT