X-Linked Recessive Disorders

Question 1

Denoted:

Answer 1

Type this

Question 2

Duchenne Muscular Dystrophy (DMD)

Answer 2

Progressive myopathy
Eventual resp and cardiac failure

Mutation in X chromosome that codes for dystrophin

Sx: pseudohypertrophy of calves as muscles get replaced by fat (elevated creatine kinase CK in plasma)

1/3 new mutation, 2/3 inherited from mother

Certain female carriers, may exhibit variable expressions of abnormal phenotype (manifesting heterozygotes)

Question 3

Becker Muscular Dystrophy

Answer 3

Same locus in DMD
15% of MD from dystophin defect
If alive beyond 20 years, possibly BMD, so capable of producing offspring

Question 4

Hemophilia A and B

Answer 4

A: Factor VIII, 8
B: Factor IX, 9

Deletion, insertion, and point mutation

Result: defective blood clotting

Question 5

Glucose-6-PO4 DH Deficiency

Answer 5

HETEROzygote advantage - malaria resistance

Hemolytic anemia (oxidative stress from drugs, diet, and infection) with Heinz bodies

Minimize drugs (primaquine), and diet (Fava bean) that cause oxidative stress

Question 6

Sideroblastic Anemia

Answer 6

Add later

Question 7

Fabry Disease

Answer 7

Add Later

Question 8

Ornithine Transcarboxymylase Deficiency

Answer 8

Orotic aciduria, add later

Question 8

Leisch-Nyhan Syndrome

Answer 8

Add later

Question 9

Lesch–Nyhan Syndrome

Answer 9

HGPRT defect, gout, purine salvage pathway (increased purine pyrimidine), mostly in males

Question 9

Hunter Syndrome

Answer 9

Add later

Question 10

Hunter Syndrome

Answer 10

I-Sulfatase, NO CORNEAL CLOUDING

Question 10

Fabry Disease

Answer 10

Add later

Question 11

Wardott-Aldrinch Syndrome

Answer 11

Add later