This uncommon genetic disorder prevents metabolization of fatty acids

Dr. Keith Roach

Question: I’m a 55-yearold mother of three daughters. I found out through genetic testing that I am a carrier for adrenoleukodystrophy. My middle daughter also is a carrier. She has three children, the last being a male, who was born with ALD. The positive result came too late to save cord blood.

Thanks to the Aidan Jack Seeger Foundation for starting a law requiring newborn screening in New York. Other families of children born with this genetic disease were able to visit my daughter and exchange recipes and support.

Since one of my daughters and I are carriers, should we take care of our fatty acids? Can I expect ALD carrier syndrome, sometimes misdiagnosed as MS? — K.S.

Answer: ALD is an uncommon genetic disorder affffffffffffecting about 1 in 20,000 people. It pre- vents people from properly metabolizing longchain fatty acids, which can build up in the brain and other tissues (especially the adrenal gland) and cause a variety of symptoms. The range of symptoms among children with ALD is broad, and they can be misdiagnosed with other neurological conditions. The diagnosis is made by DNA testing.

Boys with ALD often are treated with Lorenzo’s oil, a mixture of dietary fats. If started early, it appears to slow progression of the disease, but a defifinitive study of effffectiveness is underway. A transplantation of stem cells, from umbilical cord blood or from a peripheral stem cell or bone marrow donor, is appropriate for some boys with the disease, such as those with early symptoms and MRI abnormalities.

Women with one copy of the gene (the word “carrier” denotes an absence of symptoms, which unfortunately is not the usual case) generally do not have symptoms until later in life. You are correct that these symptoms can be misdiagnosed as multiple sclerosis.

I could not fifind any information on the effffffffffffectiveness of dietary treat- ment, such as Lorenzo’s oil, in women. It makes sense that it might help, but is unlikely to prevent progression completely. I am sorry: I wish I had better news to give.

Q: My husband has had the poops bad every day for almost a year now. He has been to three doctors, but no one can fifind out what is wrong with him. Do you have any advice about what could be wrong and how to make the pooping stop? — D.S.

A: Diarrhea is something everyone faces, and the number of possible causes is very large. I don’t recommend treatment to stop the diarrhea without knowing what is causing it. When I hear about diarrhea going on this long, I worry about problems with absorption (such as celiac disease). In people with blood or mucus in the diarrhea, I’d consider inflflammatory bowel disease and recommend a colonoscopy.

It does not sound to me as though he has had a proper evaluation; I’d recommend visiting a new gastroenterologist, a specialist in the GI system.