Pyruvate Dehydrogenase Complex Deficiency SYNDROME INITIATIVE
FEB-MAR 2023
What is PDCD?
Pyruvate Dehydrogenase Complex Deficiency occurs when there is a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. This disorder usually arises from a mutation in the PDHAI gene on the X chromosome. If PDCD symptoms develop prenatally, it is more likely that the infant will not survive. If PDCD symptoms develop later in childhood, there may be neurological symptoms; however the affected individual can still survive until adulthood. Common symptoms include poor feeding behaviour and rapid breathing due to increased blood acidity. Neurological function impairments include motor delays, poor muscle tone, seizures and other brain abnormalities. Current treatment methods include blood and urine tests, and MRIs. While there are no current treatments, it is recommended to have a low carbohydrate and low fat diet as these molecules use the PDH complex for metabolic activities. Some anti-epileptic drugs can also be used to prevent seizures.
Why We Chose PDCD?
Metabolism represents all the chemical reactions in our body, where completely oxidizing or breaking down glucose is essential for survival. Due to this, AdvoSci chose PDCD as one of their initiatives as pyruvate dehydrogenase deficiency blocks metabolic reactions which further leads to detrimental detrimental consequences in an individual. Did you know that PDCD is more common in males than females and female carriers only show mild symptoms; males only have 1 X chromosome, and if mutated, it causes disease. Did you also know that less than 1000 individuals have the disease in the US. Also, 1 in 40 000 children is born with PDCD! Although the ailment is rare, it is an important one to discuss!
