Pyruvate Dehydrogenase Complex Deficiency (PDCD)

Overview:
Pyruvate Dehydrogenase Complex Deficiency results from the deficiency of one or more of the pyruvate complex enzymes. In short, the body can no longer effectively metabolize carbohydrates and as a result the body’s ability to produce enough energy to run it’s systems is interrupted.

Symptoms:
The severity of symptoms vary widely from person to person but often include:

• Low muscle tone


• Irregular eye movements


• Seizures


• Poor head control


• Lack of energy


• Developmental Delays


• Complications of normal childhood illnesses


• High lactate


• Acidosis

Testing/Diagnosis:
PDCD is normally diagnosed via muscle or skin biopsy. Genetic (DNA) testing is also sometimes recommended because occasionally, a single biopsy won’t show the deficiency.

Treatment:
Currently there is no cure for PDCD however the Ketogenic diet has improved the quality of life of many patients. Vitamin B1 is also recommended.

Resources:
You can find our support group on Facebook if you search PDCD Parents and Friends.

More information on PDCD:
Genetics Home Reference
United Mitochondrial Disease Foundation

Personal Story:
My husband, two sons and I welcomed our third son, Gavin, into our family in late summer of 2009. At first, Gavin seemed as healthy as our other two children although he was a little smaller. Within two weeks however, Gavin was rushed to the hospital by ambulance because he was having a hard time breathing. I had no idea the road we were in store for.

Upon arriving at the hospital Gavin was discovered to be acidotic (too much acid in the blood). After some further tests and observation Gavin was transported to Nationwide Children’s in Columbus with suspicion that he had a metabolic disorder. There, we met our metabolic team of Geneticists, Nurses and a Dietician who would later become like an extended family to us during our stays at the hospital.

It took a few months for the tests to come back but it was confirmed that Gavin suffered from a very rare metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency (PDCD). PDCD is a genetic, neurodegenerative disorder which interrupts the body from correctly metabolizing carbohydrates. There is no cure for this disorder but in some cases it can be managed with the Ketogenic (high fat, low carb) Diet.

At the time Gavin was diagnosed, he had mild motor delays which was pretty good considering that the disorder can affect boys pretty severely. In fact, many boys don’t live for more than a few years. Our doctors however, were optimistic and hopeful because Gavin was presenting fairly well and some tests had come back indicating that Gavin was mosaic, meaning some cells in Gavin’s body were functioning perfectly fine. We were still given an emergency letter with instructions for any doctor that may be treating Gavin. We were also told when to take him to the hospital and were warned that the slightest childhood illnesses could become life threatening very quickly.

We learned how quickly the following month. Gavin was sick with a fever and was breathing a little faster. We took him to the ER and gave them the ER letter, all the time thinking he didn’t look any sicker than any other baby with a fever. Within an hour of arriving at the hospital, Gavin suffered from respiratory failure. He had to be intubated and flown to Nationwide where he was treated and released a week later. To make matters worse the same thing happened again two weeks later. At that point, we realized how fragile our seemingly normal child was.

Through all of this, Gavin recovered just fine and he continued to develop at a regular pace slightly behind his peers. However, in the summer of 2010, just when Gavin was starting to sit up on his own and roll to go where he wanted, he suffered a major setback. He once again became acidotic but this time when Gavin woke up, something was different. He was really floppy and wasn’t responding like he normally did. An MRI later confirmed that he had suffered some injuries to different areas of his brain. Gavin slowly came around. He started smiling and cooing again but he continued to have difficulty with seemingly simple motor skills, like holding up his head. This was a hard time for all of us but it was a turning point as well. We began to learn to appreciate what Gavin could do instead of focusing on what he couldn’t. Each smile became priceless and each new skill was something to truly celebrate.

In the months that followed, Gavin continued to recover, slowly regaining some motor control. What loomed around the corner continued to haunt us, although we tried our best to focus on the present. Cold and flu season soon caught up to us though and Gavin became feverish once again. This time, Gavin did well with the fever but his respiratory infection caused complications. Due to his hypotonia (low muscle tone), he couldn’t cough well enough to clear his secretions and developed pneumonia. He needed breathing support and we went along with the Doctors’ advice and made arrangements for Gavin to have a tracheostomy. Soon afterward Gavin was back to his happy self, smiling upon seeing people he recognized and loving games like peek a boo. About a month after his surgery Gavin came home and life and we began to develop our new normal. Today, Gavin enjoys reading books and watching his brothers play. He’s an avid lover of Nick Jr. and attends preschool with his nurse a couple times a week.

What a road this has been so far! Less traveled, and not the one we expected to take, but I can say that I’ve learned alot! I’d be lying if I said that I wouldn’t change a thing but I am grateful for what I’ve learned to appreciate and I’m thankful for the people we’ve met. I’m not sure where our road will take us but I know that as a family we can handle the things that life throws our way and we’ll cherish everyday we have together.

Contributed by MOM Michelle King