DNNMasters SEO URL Provider is running in evaluation mode. Please purchase license on www.dnnmasters.com

 

"Despite the modern approach to health, every symptom has a cause and it is the cause that needs treating not the symptom."

Diana Mossop

3 methylglutaconyl coa hydratase deficiency

Definition

The enzyme called 3-Methyl Glutaconyl-CoA Hydratase is involved in amino acid (Leucine) metabolism. This enzyme is located in the mitochondria together with other enzymes of catabolic leucine. When an individual has a deficiency of 3-Methyl Glutaconyl-CoA Hydratase, 3-methylglutaconic acid is excreted massively and the impaired leucine breaks down. Very few patients have been reported with this type of deficiency but its occurrence is a reality, nonetheless. There a few severe clinical cases that have been reported which resulted because of this deficiency. Some patients have developed severe cardiopulmonary manifestations as soon as they were born; others have been reported to have psychomotor retardation; other cases include hypotonia, seizures, spasticity and thriving failure. Carnitine levels are at their lowest with this deficiency occurs. There are also rare cases of recurrent acidosis (seen in cases of fasting that has been prolonged). There was also a reported case of speech retardation.

Inheritance

This disorder only occurs when the patient acquire two diseased genes (or mutation of these genes). Soon after this, the symptoms begin to show. The carriers (patients with only one copy of the diseased gene) usually do not show any symptoms of the illness. Although they do not show symptoms, they can still pass the diseased gene to their children. There is a 25% chance that a child will have 3-Methyl Glutaconyl-CoA Hydratase deficiency if both parents carry the diseased gene. Just like any other genetic illness, it is best for families to go through genetic counseling so that each member of the family would be able to understand the risks and proper care of the disorder.

Testing

Screening for newborn babies can be done for this disorder by having a tandem mass spectrometry of a dried blood spot. Infants that are diagnosed with the disorder are shown to have increased (C5-OH) enzymes or the so-called C5-hydroxy acylcarnitine. This is not the final testing for 3-Methyl Glutaconyl-CoA Hydratase Deficiency, though. Additional testings need to be done to confirm diagnosis. These additional tests include (lymphocyte) hydratase enzyme activity measurement or fibroblasting. For prenatal diagnoses, the metabolites in the amniotic fluid are the ones that are being measured.

Testimonials

We have a growing number of testimonials from patients who want to spread the word about Phytobiophysics.

I first read about the Mossop Philosophy in a book written about ME, called 'Recovery from ME, 50 recovery stories'. It was the first positive book I had read about this so called untreatable condition since I had been diagnosed …

I am writing to thank you for your treatment of me and my family. I first came to you in early March this year, when I had been recently diagnosed as a Diabetic. I was shocked and upset about this diagnosis, fearful of the futu…

A nutritionist recommended IMU 10 to me in September 2010. 18 months later I realise that I have spent two winters free of the usual colds and flus that normally plagued me - fairly impressive for someone working in a stressful of…

Having suffered from skin problems all my life, and having a doctor in the family, I am well placed to comment on the short-comings of traditional medicine in treating conditions like mine. After years of dragging vainly betwee…

Daniel’s Story Daniel was a normal lively 1 year old, very healthy and rarely ill. He was due to have his MMR vaccination with a flu [Swine flu] vaccination to follow 10 days later. I was concerned that it was too much for …

Dearest Diana - thought I'd write you a letter, To just let you know that I'm feeling much better, I came to your clinic in a state of despair, And left feeling " New ", like a breath of fresh air. I’d tried all the doctors, di…

blog comments powered by Disqus
Diana's mission is to bring affordable, ethical and effective medicine, using the natural healing power of plants, to the children of the world, not just her children but all children, in her life time.