AUBF LEC

Question 1

What are under cystine disorders

Answer 1

Cystinosis
Cystinuria
Homocystinuria

Question 2

What are the disorders associated with cystinosis?

Answer 2

Nephropathic cystinosis
Intermediate cystinosis
Ocular cystinosis

Question 3

What is the most common and severe form under the disorders of cystinosis

Answer 3

Nephropatic cystinosis

Question 4

This is a rare type of cystinosis with similar features as nephropatic cystinosis except that the onset of symptoms occurs in adolescence

Answer 4

Intermediate cystinosis

Question 5

This is a milder form of cystinosis that manifests only ocular impairment and does not involve renal damage

Answer 5

Ocular cystinosus

Question 6

This type of cystine disorder is an inherited autosomal renal tubular disorder characterized by decreased reabsorption pf cysteine and the dibasic amino acids

Answer 6

Cystinuria

Question 7

Dibasic amino acids:

Answer 7

Lycine
Ornithine
Arginine

Question 8

This is an inherited autosomal disease that involves a defect in the lysosomal membranes of cells

Answer 8

Cystinosis

Question 9

This is an inherited disorder of methionine metabolism leading to sn abnormal accumulation of homocysteine and its metabolites

Answer 9

Homocystinuria

Question 10

The most common form of Homocystinuria is characterized by:

Answer 10

Nearsightedness
Dislocation of the lens at the front of the eye
Increased risk of abnormal blood clotting
Brittle bine
Developmental delay and learning problems

Question 11

What are under the branched chain amino acid disorder

Answer 11

Maple syrup urine disease
Organic acidemia

Question 12

It is a rare autosomal recessive inherited disease characterized by accumulation if branched chain amino acids

Answer 12

Maple syrup urine disorder