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ALD results when mom has damaged X chromosome

Lorenzo's Oil was a touching documentary  Lorenzo now ald

Adrenoleukodystrophy (ALD)

Could a girl be affected prior to her birth if one or both parents had serious exposure to 2-butoxyethanol?  Or could she be affected by her own exposures throughout her life?

 Then could she have what would cause ALD in her child?

ALD is said to be genetic - on a mom's X chromosome  *

The Myelin Project:  Hope for Multiple Sclerosis, the Leukodystrophies, and other Myelin Disorders 

... but are there some similarities?  I noticed in the film that they had a trial study of immune suppression, which leads me to believe that the immune system was noticed as being 'over active'  I would suspect autoimmune.

When Lorenzo's dad noticed that the Polish rat study, and the camera panned on what he found of interest, there was another word, such as hyper or hypo thyroidism.

These would be a part of what could come in 'the package' of 2-butoxyethanol poisoning.  I also wonder about neuroblastoma such as Alex had.

Is neuroblastoma autoimmune?  Take a urine test in babies for early diagnosis?

or hemangiomas such as happen to babies because they can also be internal:  on spleen, pancreas, liver, spine. Often baby was premature?  and of low birth weight?  Things that are indicative of this chemical's harm, as well.

 

If 2-butoxyethanol were involved there would be autoimmune hemolytic anemia evidenced by red blood cells that are mostly immature & in the early years, trace blood in urine.  Check 'retic' rate & track it over time.


2-butoxyethanol causes hemolysis ... a synonym for that is hemoglobinuria

Pathophysiology: PNH currently is reclassified from purely an acquired hemolytic anemia due to a hematopoietic stem cell mutation defect. This change in concept was brought about by the observation that surface proteins were missing not only in the red cell membrane but also in all blood cells, including the platelet and white cells.

The common denominator in the disease, a biochemical defect, appears to be a genetic mutation leading to the inability to synthesize the glycosyl-phosphatidylinositol (GPI) anchor that binds these proteins to cell membranes. The corresponding gene PIGA (phosphatidylinositol glycan class A) in the X chromosome can have several mutations, from deletions to point mutations. The essential group of membrane proteins that are lacking in all hematopoietic cells are called complement-regulating surface proteins

Why focus on 2-butoxyethanol?

Worst thing about NOT knowing the chemical of harm - Is that you can't get an accurate diagnosis - Nor avoid future exposures to the same chemical

Symptoms of exposure:

2-butoxyethanol  (CAS 111-76-2)

does the following:

Irritating to eyes, skin, nose, throat; Cough, nausea, drowsiness, headache, redness of eyes, eye pain, blurred vision, abdominal pain, diarrhea, vomiting, CNS depression, hemolysis, hemoglobinuria.

MSDS

Target organs:

Eyes, skin, respiratory system, central nervous system, hematopoietic system, blood, kidneys, liver, lymphoid system

Effects of short-term exposure: 

Irritates the eyes, skin and respiratory tract. Can depress the central nervous system and cause liver and kidney damage.

Effects of long-term exposure: 

Exposure may result in blood disorders.

Special Warnings:

Prevent generation of mists!

hemoglobinuria?  What is that?

_______________________________

ALD - Adrenoleukodystrophy


 

... the kind of thing ... that 2-butoxyethanol overexposure would cause ...

Adrenoleukodystrophy (ALD) is a rare, inherited metabolic disorder that afflicts the young boy Lorenzo Odone, whose story is told in the 1993 film "Lorenzo's oil." In this disease, the fatty covering (myelin sheath) on nerve fibers in the brain is lost, and the adrenal gland degenerates, leading to progressive neurological disability and death.

People with ALD accumulate high levels of saturated, very long chain fatty acids in their brain and adrenal cortex because the fatty acids are not broken down by an enzyme in the normal manner. So, when the ALD gene was discovered in 1993, it was a surprise that the corresponding protein was in fact a member of a family of transporter proteins, not an enzyme. It is still a mystery as to how the transporter affects the function the fatty acid enzyme and, for that matter, how high levels of very long chain fatty acids cause the loss of myelin on nerve fibers.

More recently, all the transporters related to ALD protein have been found in the yeast Saccharomyces cerevisiae, and a mouse model for the human disease has been developed. These and other molecular biology approaches should further our understanding of ALD and hasten our progress toward effective therapies.

Source

In speaking with a researcher for ALD, he said that the mother must have a certain thing happening with the X chromosome.

I found that this chemical exposure does cause some problems with a woman's X chromosome, so possibly a birth defect for her?

Margaret e-mail

Who am I?  Just an ordinary person who  looked into the harm of this chemical (& spent a lot of time doing so since June, 2002)

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