WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Tuesday, April 8, 2014

A Spoon Full of Sugar

One of the things that has been key for Abby to stay stable has been sugar.

I assumed that since it is easy energy it gives her body enough energy to digest more complex foods, but maybe there is more to it. Breast milk, formula's, elemental formula's, IV's- all full of sugar. Delicate bodies appreciate some easy energy. Young,old, sick..

Even if there isn't more to it, knowing that they are finding mutations now that they are trying to treat with sugar? Makes Abby's food needs seem less oddball.

I ran across an article about a new genetic syndrome caused by PGM3 mutation. Guess what they are trying to treat it with? Yep, Sugar!

Abby has some of the symptoms but not all so I am doubting this is her mystery disorder, but perhaps it is a step closer.

Here is the Link-----

New genetic syndrome identified that includes allergy, immune deficiency, neurocognitive impairment

A few favorite snippets:

March 4, 2014
NIH/National Institute of Allergy and Infectious Diseases
A new genetic syndrome has been identified, characterized by a constellation of health problems, including severe allergy, immune deficiency, autoimmunity and motor and neurocognitive impairment. The researchers observed that the syndrome's diverse symptoms are the result of mutations in a single gene associated with sugar metabolism.

The study, published in the Journal of Allergy and Clinical Immunology, involved eight patients from two families. The families were originally referred to NIH because of severe eczema and recurrent skin and lung infections. By studying this group, the investigators found that the syndrome is caused by mutations in the PGM3 gene that result in the production of underactive PGM3 protein. The NIH team showed that underactive PGM3 leads to lower levels of sugars that are essential for glycosylation, or the attachment of sugars to proteins. Glycosylation is necessary for the normal growth and function of all tissues and organs in the human body. The variety of symptoms in people with PGM3 mutations likely reflects the production of abnormally glycosylated proteins throughout the body. In the laboratory, adding a certain type of sugar to cells from patients with PGM3 mutations boosted cellular levels of the sugars necessary for glycosylation, thus suggesting a potential treatment.

Hoping Science hurries up and catches up with Abby, reading these type of articles makes me more hopeful.


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