4. Lactic Acidosis: A Subtle Warning
A major challenge with rare diseases is that they often manifest symptoms commonly associated with less severe conditions. Lactic acidosis is a prime example. The term itself refers to an abnormal increase in the levels of lactic acid in the bloodstream. At a glance, it might seem unrelated to neurological disorders, yet its relationship with Leigh’s Syndrome is profound.
When our cells produce energy, lactic acid is a normal byproduct. However, due to the cellular dysfunction often seen in Leigh’s Syndrome, there’s an overproduction of this acid.
The early signs might be overlooked easily. Rapid breathing, a sudden bout of nausea, or an unexpected increase in heart rate in a child might be dismissed as results of exertion or a minor infection.
As the disease progresses, the symptoms become more evident. There’s a potential for muscle aches, fatigue, and prolonged feelings of weakness. The consequences of untreated lactic acidosis can be dire, including the risk of liver failure or severe neurological consequences. It’s a subtle symptom, but one that needs timely intervention and management to prevent its devastating impact. (4)
