Pregnancy in MNGIE: a clinical and metabolic honeymoon. Issue 12 (7th November 2020)

• Record Type: Journal Article
• Authors: Pappalardo, Pauline; Benoist, Jean‐François; Bax, Bridget E.; Carra‐Dallière, Clarisse; Marelli, Cecilia; Levene, Michele; Begue, Laetitia; Rolland, Anne; Flori, Nicolas; Rivier, François; Blanchet, Catherine; Munnich, Arnold; Altwegg, Romain; Meyer, Pierre; Roubertie, Agathe
• Is Part Of: Annals of clinical and translational neurology. Volume 7:Issue 12(2020)
• Page Start: 2484
• Page End: 2488
• Publication Date: 2020-11-07
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; 616.8005
• DOI: 10.1002/acn3.51202
• Languages: English
• ISSNs: 2328-9503

Abstract

Abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations. We report the clinical and biochemical manifestations that were evaluated in a single patient before, during, and after pregnancy, over a period of 7 years. GI symptoms significantly improved, and plasma deoxyribonucleotide concentrations decreased during pregnancy. Within days after delivery, the patient's digestive symptoms recurred, coinciding with a rapid increase in plasma deoxyribonucleotide concentrations. We hypothesize that the clinico‐metabolic improvements could be attributed to the enzyme replacement action of the placental thymidine phosphorylase.