An interesting study that I stumbled upon recently, which was a report that found a link between Vitamin B6(pyridoxal 5′-phosphate) deficiency and a genetically linked, physical foot form known as Morton’s foot.
Morton’s foot is a condition of a shortened first metatarsal in relation to the second metatarsal. In other words, your second toe is longer than your first toe.
Picture of Morton’s Foot – Photo courtesy of Wikipedia.
This report announces the connection between a deficit of P5P/PLP with a genetically linked physical foot form known as Morton’s foot.
Morton’s foot has also been associated with fibromyalgia and myofascial pain syndrome.
What is PLP(pyridoxal 5′-phosphate) ?
Pyridoxal 5′-phosphate also known as PLP or P5P is the active, co-enzyme form of Vitamin B6.
Vitamin B6 is an essential vitamin needed for many chemical reactions in the human body. It exists as several vitamins forms but pyridoxal 5′-phosphate (PLP) is the phosphorylated form needed for transamination, deamination, and decarboxylation.
PLP is important in the production of neurotransmitters, acts as a Schiff base and is essential in the metabolism of homocysteine, a toxic amino acid involved in cardiovascular disease, stroke, thrombotic and Alzheimer’s disease.
Methylenetetrahydrofolate reductase (MTHFr) Gene Mutations & Hyperhomocysteinemia
I thought this study was very interesting because it once again highlighted the importance of the active form of Vitamin B6(pyridoxal 5′-phosphate) and gene mutations such as methylenetetrahydrofolate reductase (MTHFr).
The gene mutation methylenetetrahydrofolate reductase (MTHFr) is now being recognized much more commonly than previously and many functional medical practitioners now believe it may be the “missing link” in regards to the treatment of many common and difficult to treat health problems such as chronic fatigue syndrome, fibromyalgia, chronic Lyme disease and even cardiovascular diseases.
Gene mutations such as MTHFr, MTR(methionine synthase) and MTRR(methionine synthase reductase) can cause impairments in methylation function and cause a deficit in the remethylation of homocysteine, allowing levels to build in the body.
Scientific research has confirmed that elevated homocysteine(hyperhomocysteinemia) is an independent risk factor for developing heart disease and also plays a role in the etiology of neurodegenerative diseases such as Parkinson’s and Alzheimer’s.
Quote from the study on treatment recommendations for those with MTHFR gene mutation and hyperhomocysteinemia:
Supplementation with PLP, L5-MTHF, B12 and trimethylglycine should be used in those patients with hyperhomocysteinemia and/or MTHFR gene mutation.
I have Morton’s foot myself and through a variety of private health tests, have uncovered many of the genetic defects or SNP’s(Single-nucleotide polymorphisms) relating to methylation such as MTHFr, which the report above describes.
Another phenomenon that I stumbled upon, was when I had my blood serum levels of pyridoxine tested. Pyridoxine is the inactive form of Vitamin B6. My tests found that I had extremely high levels of Vitamin B6 building up in the blood, despite having never supplemented or consumed any fortified foods containing Vitamin B6.
There is actually a study, which discovered this phenomenon in children with Autism Spectrum Disorders. The study found children with Autism had abnormally high blood plasma levels of Vitamin B6(pyridoxine) compared to normal controls.
The study concluded that the likely explanation for the elevated inactive pyridoxine levels was because conversion to the active form i.e PLP is impaired.
Total vitamin B6 is abnormally high in autism, consistent with previous reports of an impaired pyridoxal kinase for the conversion of pyridoxine and pyridoxal to PLP. This may explain the many published studies of benefits of high-dose vitamin B6 supplementation in some children and adults with autism.
I’ve referenced both studies below, the first on Morton’s foot and pyridoxal 5′-phosphate deficiency and the other on the children with Autism spectrum disorder who had abnormal Vitamin B6 levels.
1. Morton’s foot and pyridoxal 5′-phosphate deficiency: genetically linked traits.
2. Abnormally high plasma levels of vitamin B6 in children with autism
not taking supplements compared to controls not taking supplements.
The information in this article has not been evaluated by the FDA and should not be used to diagnose, cure or treat any disease, implied or otherwise.