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Vitamin D deficiency common among patients with Rett syndrome

Posted on: October 11, 2013   by  Vitamin D Council


Researchers out of Serbia have found that people with Rett syndrome have very low vitamin D levels, likely to due to intake of anti-seizure medications.

Rett syndrome (RTT) is a very rare developmental disorder. It is caused from a mutation of the X chromosome on a gene called MECP2. This leads to loss of hand functionality, slowed brain growth, seizures, and problems with walking. It is sometimes initially misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.

Those with RTT exhibit altered bone growth with increased risk of osteopenia and fractures. People with RTT also experience seizures. So researchers wanted to look at vitamin D levels of people with RTT, to see if they tended to have enough or too little vitamin D. Vitamin D may play a role in seizure management and has effects on bone. Also, many anti-seizure medicines lower vitamin D levels, so those on anti-seizure medicine may need more vitamin D than others.

This new study looked at 35 patients with RTT and compared them with 35 age-matched females diagnosed with other neurological diseases. They took laboratory measurements of serum vitamin D, parathyroid, calcium, and alkaline phosphatase.

They found people with RTT had significantly lower vitamin D levels than those in the control group. The females with RTT had a median vitamin D level of 10.5 ng/ml.. Patients receiving multiple anti-seizure medications (polytherapy) had 3.3 times greater chance for severe vitamin D deficiency than patients only receiving one anti-seizure medication (monotherapy).

The researchers concluded that RTT patients undergoing anti-seizure treatment are at high risk for vitamin D deficiency and should be tested for vitamin D and treated accordingly.


Sarajlija A, et. al. Vitamin D deficiency in Serbian patients with Rett syndrome. Journal of Clinical Endocrinology & Metabolism, 2013.

1 Response to Vitamin D deficiency common among patients with Rett syndrome

  1. [email protected]

    Information on Rett, including the great benefit from Omega-3
    Wonder if vitamin D deficiency exists BEFORE seizures start at age 3?

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