Risk of hyperammonemic coma in the puerperium: two cases of women with diagnosed and undiagnosed deficiency of urea cycle enzymes

Acta Obstetricia Et Gynecologica Scandinavica
Kati TihtonenPäivi Keskinen

Abstract

Deficiencies of urea cycle enzymes are rare metabolic disorders. Inadequate function of these enzymes may in worst cases lead to hyperammonemic encephalopathy and death. The danger of urea cycle enzyme deficiencies is that previously healthy adults with no prior medical history suggesting these deficiencies may suddenly develop life-threatening complications during prolonged catabolic situations such as delivery or surgery. Since most of the metabolic disorders are diagnosed during childhood, it may sometimes be difficult to bear in mind these rare diseases as a cause of unconsciousness in adulthood. However, early diagnosis and prompt initiation of ammonia-lowering treatment are essential for survival of these patients. We present two pregnant women with urea cycle disorders: one with a known deficiency and an uncomplicated outcome, and another with a previously undiagnosed disorder and life-threatening course of the postpartum period.

Citations

Mar 25, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ari Auron, Patrick D Brophy
May 6, 2011·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Maria Clara ToniniM Mattioli
Jan 19, 2016·The American Journal of Emergency Medicine·Ayça AçıkalınŞebnem Bıçakçı
Apr 20, 2014·La Presse médicale·Aude KersaleJean-Marie Tonnelier
Jan 24, 2018·Pediatrics International : Official Journal of the Japan Pediatric Society·Jun KidoKimitoshi Nakamura
Dec 6, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Penelope D Manta-VogliYannis L Loukas
Sep 11, 2018·Reviews in Endocrine & Metabolic Disorders·Gisela Wilcox

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