Doc: Genetic disorder prevents fatty acid metabolizing

Dear Dr. Roach: I’m a 55-year-old 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.

Dear K.S.: ALD is an uncommon genetic disorder affecting about 1 in 20,000 people. It prevents people from properly metabolizing long-chain 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 definitive study of effectiveness 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, with less than 20 percent of women under 40 having symptoms, but almost 90 percent of women over 60 having symptoms.

You are correct that these symptoms can be misdiagnosed as multiple sclerosis. Women may develop neuropathy and muscle symptoms, and often develop fecal incontinence.

I could not find any information on the effectiveness of dietary treatment, such as Lorenzo’s oil, in women. It makes sense that it might help, but since the body makes its own long-chain fatty acids, it is unlikely to prevent progression completely. I am sorry: I wish I had better news to give.

One place to find more information is at myelin.org, choosing “ALD” from the “About” menu.

Dear Dr. Roach: Would it be OK to take montelukast with an antihistamine?

S.H.

Dear S.H.: The combination of antihistamines (such as Claritin or Zyrtec) and montelukast (Singulair) is more effective than either alone and is commonly prescribed.

Email questions to ToYourGoodHealth@med.cornell.edu.