February 19th, 2020

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Myoadenylate Deaminase Deficiency and Rhabdomyolysis in Pregnancy: A Case Report
Authors:  Theresa Kuhn, M.D., Tina Musa, D.O., Abdulla Al-Khan, M.D., and Jesus Alvarez-Perez, M.D.
BACKGROUND: Myoadenylate deaminase (MADA) deficiency is a defect in the gene that codes for the enzyme adenosine monophosphate deaminase, which results in a deficiency in energy production in skeletal muscle. Symptoms range from mild fatigue to severe rhabdomyolysis. Only 1 case of this disease in pregnancy has been reported in the literature. We are reporting the second case.

CASE: A 38-year-old woman, G2P0, had MADA deficiency diagnosed early in her life. Her antenatal course was complicated by rhabdomyolysis secondary to her disease as well as gestational diabetes with suspected fetal macrosomia. Due to these 2 conditions, we made a decision for cesarean delivery. Her postpartum course was uncomplicated other than severe fatigue, which she controlled with ribose shakes.

CONCLUSION: MADA deficiency can result in severe rhabdomyolysis that may require dialysis. Because our patient had rhabdomyolysis during her antenatal course as well as the diagnosis of fetal macrosomia, we planned for cesarean delivery to avoid the complications of this disease that may arise during labor, especially during the second stage. Ribose should be available at delivery and in the postpartum course to avoid complications of MADA deficiency.
Keywords:  adenosine deaminase; adenosine monophosphate deaminase deficiency; AMP deaminase; AMPD1 protein, human; high-risk pregnancy; kidney failure, acute; ribose; rhabdomyolysis; ribose
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