Genetics 6: x-linked recessive diseases Flashcards
What drugs can you use to get rid of excess nitrogenous waste?
Sodium benzoato
Sodium phenylBureate
What substances build up in ornitine transcarbanoylase deficiency? OTCase
Ammonia, causing hyperamonemia and
Orotic acid
OTCase is a deficiency in the ——- cycle
Urea cycle,
Def in ornitine transcarbamoylase (es el tren del ciclo)
Newborn with unwillingness to eat, problems regulating temperature and breathing. Seizures, movement disorder and complications like coma
Ornitine transcarbamoylase deficiency
OTCase
EmG shows muscle weakness, not nerve weakness, creatinine kinase elevation, growers sign, errors in Xp21 Febe, absence of dystrophin gene
Duchenne muscular dystrophy
Dystrophin is decreas3d here, not absent but gene mutation is also in dystrophin gene
Becker’s dystrophy
Inheritance mode of Becker’s dystrophy and duchenne
X- linked recessive
Bleeding to joints commonly, can also be to muscles, GI and brain. Increased aPTT, normal PT and normal bleeding time
Hemophilia 8
Management of hemophilia 8
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
Number one cause of mental retardation
Fetal alcohol syndrome
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.
X linked mental retardation
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.
X linked SCID
Most common type of severe combined immune deficiency
X-linked SCID
X linked recessive
Second most common severe combines immunodeficiency is
Adenosine Deaminase ADA deficiency
In x linked recessive SCID, the —— cells and the —— cell production is markedly decreased
NK cells. t cells
Important pathogen seen in SCIDS, a sign of SCIDS
Candida albicans
Recurrent eczema like rashes, T cell and NK cell production is decreased
X- linked recessive SCID
Mutation in IL-2 gene
X linked recessive SCID
What is the problem in glucose 6 phosphate DH deficiency?
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.
G6PD def is a disorder of the ——- shunt
HMP shunt
Causes of G6PD def
Drugs like dapsone, antimalarials, sulfa, nitrofurantoin, quinidine, quinine, aspirin
Also fava beans, infections, and DKA (diabetes ketoacidosis)
Peripheral smear finding in G6PD deficiency
Heinz bodies
Bite cells
Reticulocytosis
