High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.

ABSTRACT:

Background

Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment and poor outcome. The major aim of this study was to identify specific initial symptoms or signs to clinically distinguish hyperammonemic encephalopathy in neonates from neonatal sepsis in order to identify affected individuals with UCD and to start metabolic therapy without delay. Furthermore, we evaluated the impact of diagnostic delay, peak plasma ammonium (NH₄⁺) concentration, mode of emergency treatment and transfer to a tertiary referral center on the outcome.

Methods

Detailed information of 17 patients (born between 1994 and 2012)

SUBMITTER: Teufel U 

PROVIDER: S-EPMC6454767 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature