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

 

"The osteopathic paradigm is that , “Structure governs function”! However, I believe that emotions impact on function therefore they must also interfere with structure."

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.

Hi Diana I would like to give a testimonial about my grandson for your web site I seem to be unable to upload recommendations myself. 'My six year old grandson is growing up in a world where the use of synthetic oestrog…

I am a practitioner of Phytobiophysics based in Malaysia. When I first started practicing Phybiophysics, my friend's 6 months old baby suffered with leukemia. I have used Phytobiophysics flower formulas to help him and together wi…

Firstly, let me say a big ‘Thank you’ from both myself and my daughter for your products. I wrote to you when I had seen your stand at the N E C., and told you about my glaucoma. You sent me some of your tablets the doctors ha…

Francesca and I work in reception at The Berkeley Clinic and we are in a privileged position to see Diana’s patients come and each time they do, you can see the improvement and the patients always speak highly of Diana and Anthony…

I feel awful that it has taken so long to do but I really wanted to let you know how much I appreciate all your help with my daughter, J???. Right from when she was a baby she had never slept well and she grew into a lively chi…

My illness came 3 years ago as quite a shock it all happened so quickly. Happily married loving working as a Reflexologist -when more or less overnight my whole world changed. I had these terrible pains and fatigue which left me f…

blog comments powered by Disqus
The Phytobiophysics formulas are being used to help children at the Bentong Special Needs Centre in Malaysia.