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

 

"Structural problems usually come about, not as a result of mere physical trauma but as a consequence of the underlying weaknesses caused by toxicity or negative emotions."

Anthony 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.

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…

I am writing to you regarding D??? progress that she has made since coming to see you in November. As you are aware her fits and seizures have been very bad to the point of not knowing what to do other than have her heavily sed…

Triathlon Champion after serious Sports Injury I first came to see Diana Mossop in 1998 as I had recurring chest infections which were preventing me from doing my hobby, training and racing in the sport of triathlon###;### ‘Ev…

I would like to thank you for all the help that you have given me over the last 18 months. Although I was aware of how much you have helped other members of my family for various ailments, I confess that I remained sceptical — to …

Huge thanks to you Diana for all you have done for me and my son! We came to you in despair as all the doctors said that they could not help nor diagnose the problems he had, (recurrent nausea, jaw pain and anxiety) and we were a…

Some 16 months ago following a long period of ill health and frequent visits to doctors, In desperation I visited Diana. I was at the time suffering from a progressively debilitating shoulder pain and a re-occurrence of chroni…

blog comments powered by Disqus
The Institute of Phytobiophysics was established in 1990 and was affiliated to the Open International University of Complementary medicine in 1992.