Open AccessHyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature
Author(s) -
Ho Bernice,
MacKenzie Jennifer,
Walia Jagdeep,
Geraghty Michael,
Smith Graeme,
Nedvidek Julie,
Guerin Andrea
Publication year - 2019
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12025
Subject(s) - hyperammonemia , pregnancy , pediatrics , medicine , population , disease management , intensive care medicine , obstetrics , disease , endocrinology , biology , environmental health , genetics , parkinson's disease
Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic autosomal recessive urea cycle disorder. Only about 100 patients have been reported in the literature. As the population survives into reproductive years, pregnancy management becomes a new challenge for this clinicians. To our knowledge, there are less than three patients with successful pregnancies and deliveries found in the literature with no specific consensus on management or recommendations for HHH syndrome. We reviewed the current literature regarding pregnancy outcomes, combine it with our experience managing a patient through two successful pregnancies and identify a new concern of fetal intrauterine growth restriction. From this, recommendations for pregnancy management are made, including a detailed protocol for clinicians to use for disease management at delivery and in the post‐partum period.