Pyruvate Dehydrogenase Deficiency

Many of you have been asking what we found out at Nathan’s last appointment.   We were fortunate enough to be able to rule out some pretty serious diseases.   We are very thankful for that.

One number that came back high was Nathan’s glycine level.  The was a “clue” to the geneticist that we should follow that path versus doing a full xenome panel at this time.  He thought the number was significant enough to warrant pursuing that first.  A full xenome panel runs the risk of missing something since it looks at so much.

Tomorrow, Nathan will go to the hospital to have a skin biopsy done.  They will use a local anesthesia and use a scalpel to remove a small portion of his skin.  They will then grow it for 3-4 weeks and then send it to a lab for examination.   We then have to wait 3 more months for an answer on this test.  I think we are becoming experts at waiting, but I will say it is very trying.

There is one medication that Nathan takes that could be the cause of the high glycine level, which is why they want to look at the cells independent of the blood, it is more accurate.  

Because I am in no way close to being a scientist,  I am copying a portion of a website with the best explanation I have found of what we are looking at.  As you can see, it is still very scary, but we will deal with what we need to.   Please say a prayer for him tomorrow as I am sure it won’t be fun, but he is a champ and I am sure will do great.  Thank you all for caring about our family.

What is pyruvate dehydrogenase deficiency?

Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills, such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many people with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.

How common is pyruvate dehydrogenase deficiency?

Pyruvate dehydrogenase deficiency is a rare condition; however, its prevalence is unknown.

Stacey