Role of early management of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome in pregnancy
Abstract
Hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome is a rare inherited metabolic disorder of the urea cycle. Few reports exist to guide practices during pregnancy and fetal delivery. Yet, with affected patients often surviving into reproductive age, appropriate management of the peripartum phase is essential to ensure positive maternal and fetal outcomes.Reassuringly, the vast majority of offspring of parturients with HHH syndrome have normal developmental outcomes; yet as seen here, fetal growth restriction does appear more frequently. Furthermore, in addition to the absent fetal corpus callosum observed in this case, other fetal cerebral abnormalities, including speech delay and intellectual impairment, have been recognised.Unregulated dietary intake is one proposed factor for the observed disruption in fetal growth and early cerebral development. These stipulations not only reinforce the importance of extensive planning and teamwork, but also demonstrate the importance of timely intervention by a metabolic dietician and dietary compliance in the early organogenesis stage of pregnancy.
Citations
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Date
2021-07-01
Type
Article
Subject
Diseases & disorders of systemic, metabolic or environmental origin, Obstetrics. Midwifery
Collections
Citation
Billingham MJ, Rizk R. Role of early management of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome in pregnancy. BMJ Case Rep. 2021 Jul 1;14(7):e241424. doi: 10.1136/bcr-2020-241424.
Journal / Source Title
BMJ Case Reports
DOI
10.1136/bcr-2020-241424
PMID
34210698
Publisher
BMJ Publishing Group
Publisher’s URL
https://casereports.bmj.com/