Open AccessPregnancy in MNGIE: a clinical and metabolic honeymoon
Author(s) -
Pappalardo Pauline,
Benoist JeanFrançois,
Bax Bridget E.,
CarraDallière Clarisse,
Marelli Cecilia,
Levene Michele,
Begue Laetitia,
Rolland Anne,
Flori Nicolas,
Rivier François,
Blanchet Catherine,
Munnich Arnold,
Altwegg Romain,
Meyer Pierre,
Roubertie Agathe
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51202
Subject(s) - thymidine phosphorylase , medicine , pregnancy , glycome , deoxyribonucleotide , thymidine , nucleotide salvage , disease , gastroenterology , biochemistry , biology , cancer , genetics , nucleotide , glycan , dna , gene , glycoprotein
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.