New article on VLCFA / ALD or X-linked (high phytanic acid)
Mitochondrial Abnormalities in Fibromyalgia Suggest Low Long-Chain Fatty Acid Diets May Be Helpful for Some
Case Report
In 2012, he published
a case report of a woman with fibromyalgia for whom the standard treatments weren’t working. She was very weak, was unable to get out of bed by herself or hold dishes in her hands to wash them.
First, a muscle biopsy demonstrated decreased levels of citric acid synthase (49% of normal), cytochrome
c oxidase (53% of normal), succinate dehydrogenase (72% of normal), and nicotinamide adenine dinucleotide (NADH) dehydrogenase (73% of normal) – all signs of a defect in the mitochondrial respiratory chain.
Genome sequencing next revealed multiple polymorphisms (small changes in the DNA) (POLG1 polymorphisms (C-T polymorphism at 2254, and G-T polymorphism at 3708)) and several mitochondrial genome polymorphisms (1438 A-G, 3992 C-T, 14365 C-T, 14582 A-G, and 4042 A-G) which further cemented a mitochondrial diagnosis.
She improved significantly on a simple formula of coenzyme Q10 (ubiquinone) 200 mg, creatine 1,000 mg, carnitine 200 mg, and folic acid 1 mg taken four times a day. Each was designed to enhance a different part of the mitochondria:
Follow-up Study
Eight years later, the Ambrus group published a follow-up, “
Carnitine Palmitoyl Transferase Deficiency in a University Immunology Practice“, which described the results of metabolic workups and treatment plans for 35 patients reporting exercise intolerance and fatigue over time at a university clinic. Many of those patients had been diagnosed with fibromyalgia, most were women, and most had become ill in their 20s and 30s. Quite a few were also diagnosed with Raynaud’s Syndrome, migraine, and gut issues.
Besides fatigue and exercise intolerance, these patients commonly experienced gut problems (diarrhea, constipation, acid reflux), arthritis, headaches, frequent infections, shortness of breath, and others.
The muscle biopsies of these mostly fibromyalgia patients revealed they all had low carnitine palmitoyltransferase activity (at least a third below normal) and about a third of them had another biochemical abnormality. Note that only one patient had low
plasma carnitine levels.
Long-Chain Fatty Acid Disorders
Fats are categorized by the length of the carbon chains they contain.
excerpt:
These disorders affect either fatty acid transport via the carnitine pathway or mitochondrial b-oxidation (
fatty acid metabolism that takes place inside the mitochondria).
They may also, though, crop up later in life and manifest themselves as
rhabdomyolysis, sudden weakness, muscle pain, and kidney problems.
People with mild or moderate forms of a long-chain fatty oxidation disorder may only experience symptoms when increased β-oxidation is needed, such as during exercise or fasting, or if Ambrus is right, symptoms may be present most of the time in fatigue and exercise intolerant diseases like fibromyalgia and ME/CFS.
continue:
https://www.healthrising.org/blog/2...ties-fibromyalgia-diet-long-chain-fatty-acid/
