Genetics 6: x-linked recessive diseases

Question 1

What drugs can you use to get rid of excess nitrogenous waste?

Answer 1

Sodium benzoato

Sodium phenylBureate

Question 2

What substances build up in ornitine transcarbanoylase deficiency? OTCase

Answer 2

Ammonia, causing hyperamonemia and

Orotic acid

Question 3

OTCase is a deficiency in the ——- cycle

Answer 3

Urea cycle,

Def in ornitine transcarbamoylase (es el tren del ciclo)

Question 4

Newborn with unwillingness to eat, problems regulating temperature and breathing. Seizures, movement disorder and complications like coma

Answer 4

Ornitine transcarbamoylase deficiency

OTCase

Question 5

EmG shows muscle weakness, not nerve weakness, creatinine kinase elevation, growers sign, errors in Xp21 Febe, absence of dystrophin gene

Answer 5

Duchenne muscular dystrophy

Question 6

Dystrophin is decreas3d here, not absent but gene mutation is also in dystrophin gene

Answer 6

Becker’s dystrophy

Question 7

Inheritance mode of Becker’s dystrophy and duchenne

Answer 7

X- linked recessive

Question 8

Bleeding to joints commonly, can also be to muscles, GI and brain. Increased aPTT, normal PT and normal bleeding time

Answer 8

Hemophilia 8

Question 9

Management of hemophilia 8

Answer 9

IV recombinant or plasma concentrate
Or cryoprecipitate which has factor 8 in it

Mild cases treat with desmopressing which releases stores factor 8 from endothelium

Question 10

Number one cause of mental retardation

Answer 10

Fetal alcohol syndrome

Question 11

Most common in males. 200 genes involved. 15% of all cases of mental retardation are due to this disease. Variable severity. Most people with this has an affected relative.

Answer 11

X linked mental retardation

Question 12

Problem in the communication between B cells and T cells. The problems involves the IL-2 cytokine which is the one that helps activate B cells and CD8+T cells.

Answer 12

X linked SCID

Question 13

Most common type of severe combined immune deficiency

Answer 13

X-linked SCID

X linked recessive

Question 14

Second most common severe combines immunodeficiency is

Answer 14

Adenosine Deaminase ADA deficiency

Question 15

In x linked recessive SCID, the —— cells and the —— cell production is markedly decreased

Answer 15

NK cells. t cells

Question 16

Important pathogen seen in SCIDS, a sign of SCIDS

Answer 16

Candida albicans

Question 17

Recurrent eczema like rashes, T cell and NK cell production is decreased

Answer 17

X- linked recessive SCID

Question 18

Mutation in IL-2 gene

Answer 18

X linked recessive SCID

Question 19

What is the problem in glucose 6 phosphate DH deficiency?

Answer 19

There is low NADPH within red cells and so the oxidized glutathione cannot be reduced back into working function by the NADPH and so there isn’t glutathione to inactivate free radicals.

Question 20

G6PD def is a disorder of the ——- shunt

Answer 20

HMP shunt

Question 21

Causes of G6PD def

Answer 21

Drugs like dapsone, antimalarials, sulfa, nitrofurantoin, quinidine, quinine, aspirin

Also fava beans, infections, and DKA (diabetes ketoacidosis)

Question 22

Peripheral smear finding in G6PD deficiency

Answer 22

Heinz bodies
Bite cells
Reticulocytosis