X-linked Recessive Disorders

by Georgina Cornwall, PhD

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    Now, before we move on, I’m going to cover some of the X-linked recessive disorders that you should understand for your exams. We don’t need to know all of them by a long shot. You don’t need to know all of the details of each of these. But you should definitely be familiar with the idea that these are X-linked recessive disorders and be able to recognize them as such. First of all, we’ve already covered Duchenne muscular dystrophy. Then we have Lesch-Nyhan syndrome which is most commonly known as juvenile gout. We have overabundance of uric acid in the tissues. Usually, this happens in older individuals but this will show up in early childhood. Now HGPRT, I’m not even going to say it. That’s one of those tongue twister chemicals. You don’t need to be able to say the whole word. But HGPRT deficiency, basically we’re missing an enzyme that helps in the clearance of uric acid. Another condition is metabolic disorder of glucose-6-phosphate dehydrogenase. You may recall glucose-6-phosphate, probably one of those that you should recall. Where does that come up? Well as we know, it comes up in glucose metabolism. In this disorder, it’s affecting red blood cells primarily. So, red blood cells will lyse or break up early. So, we see essentially the effects of anemia because of glucose-6-phosphate dehydrogenase deficiency. Now, we also know hemophilia A and hemophilia B. We’re familiar with color blindness. Red-green color blindness is an X-linked trait. Another one to consider is Menkes disease. Menkes disease is a copper malabsorption disease so that copper cannot be transported into cells where it’s particularly necessary. Some of those are the brain cells. Of course, that has a large effect. It’s a neurodegenerative disease. It also has some phenotypic manifestations in very interesting hair...

    About the Lecture

    The lecture X-linked Recessive Disorders by Georgina Cornwall, PhD is from the course Single-Gene Disorders.

    Author of lecture X-linked Recessive Disorders

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD

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