DWQA QuestionsCategory: QuestionsCellular Hypoxia Despite Normal Blood Oxygen
Lori asked 1 year ago
One of the challenges mitochondrial patients face prior to diagnosis is effectively communicating symptoms to medical professionals. It is often difficult to find the words to describe the exaggerated systemic sensations that are often experienced. It quickly becomes apparent that using effective vocabulary is key in the diagnostic process. As a result, learning a new word or phrase to more accurately describe something that was previously indescribable feels empowering. The latest example for us was the phrase “cellular hypoxia”.

When patients are being evaluated for seizures, the EEG operator has the patient hyperventilate in an attempt to provoke the seizure. The operator suggested most patients experience uncomfortable jittery electrical sensations, muscle twitching, restlessness, dizziness, paresthesia, and anxiety. The EEG device itself does not feel like anything. It is not sending any electric current into the body. There is no discomfort. However, voluntarily hyperventilating can create intense jittery electrical sensations among others in some individuals. When asked what those collective electrical symptoms could be called (regardless of whether they cause a seizure), the EEG operator said the collection of symptoms could be described as “cellular hypoxia.”

The new words “cellular hypoxia” felt so empowering. Two words could now effectively describe a collection of distinct systemic electricity-like symptoms that had previously eluded effective description. A subset of the symptoms that accompany decompensation and acute dietary fat-induced seizures now had a name. It was very exciting. We felt we were really onto something that could help with the diagnosis. Yet, during our next trip to the ER, our new and exciting phrase was soon discounted by the ER doctor based on normal blood oxygen level reading.

It’s been somewhat difficult to accept this explanation as the sensation is so distinct from all others. So, we’re wondering if there is some exception in the context of mitochondrial, FAOD or GA2/MADD disorders. Generally speaking, not specific to our story, we’d like to ask the following questions:

Can cellular hypoxia co-exist with normal blood oxygen levels in a GA2/MADD episode?
If so, is there an article or resource or different term that can be used to differentiate that type of hypoxia and bring it to the attention of emergency room staff?
If indeed cellular hypoxia cannot co-exist with normal blood oxygen levels, we can at least confidently retire that gem from our vocabulary and file it under lessons learned.

Thank you!

1 Answers
Keith McIntire answered 1 year ago
I will rephrase the discussion and terminology in a way that makes sense to me. Systemic hypoxia (ie, low oxygen in the blood and therefore all the tissues) leads to reduced oxygen in cells, and therefore mitochondria. Oxidative phosphorylation (oxphos) is the biochemical pathway that in essence “burns” molecular oxygen to make ATP, the major form of cellular energy. However, to do that, oxphos needs the raw material to fuel the fire that burns the oxygen. This comes from fatty acid oxidation working in concert with another mitochondrial cycle, the tricarboxylic acid (TCA) cycle. If fatty acid oxidation is disrupted as it is in GA2, the end result is the same as hypoxia, reduced intracellular energy even when oxygen is normal. So instead of using the term “cellular hypoxia” in GA2, you can add “cellular deenergization” to your lexicon. I hope this helps. Dr. Vockley