Newborn metabolomic profile mirrors that of mother in pregnancy.

Background: Pregnancy is characterized by multiple metabolic processes to allow proper foetal development and ensure adequate stores. Little is known about the interactions between maternal and foetal metabolism during the last phase of pregnancy. Metabolomic offers potential to discover changes in maternal metabolism in pregnancy and their relation to the newborn metabolic status.

Pre-surgery urine metabolomics may predict late neurodevelopmental outcome in children with congenital heart disease.

Background: From fetal life until cardiac surgery, complex congenital heart diseases (CHD) exhibit different hemodynamic and oxygenation patterns that can lead to alteration of the metabolic profile. We used a metabolomic approach to identify urine metabolic markers before cardiac surgery, aiming to define the physiology of patients with complex CHD and to contribute to predict their neurodevelopmental outcome.

Methods: In a prospective, observational, single-center study we enrolled 28 patients with complex biventricular and univentricular CHD aged less than 5 years, on stable hemodynamic conditions, and with no genetic anomalies.

Breast milk: To each his own. From metabolomic study, evidence of personalized nutrition in preterm infants.

Objectives: The composition of milk from mothers delivering prematurely differs from that of full-term mature milk and changes over time. The aim of this study is to test the hypothesis that changes in milk metabolomic profile from mothers delivering prematurely persist over time when compared with mothers delivering at term.

Methods: Nuclear magnetic resonance spectroscopy was used to analyze the metabolome pattern of human milk samples collected from 18 mothers.

Predictive Role of Urinary Metabolic Profile for Abnormal MRI Score in Preterm Neonates.

Background And Objective: Early identification of neonates at risk for brain injury is important to start appropriate intervention. Urinary metabolomics is a source of potential, noninvasive biomarkers of brain disease. We studied the urinary metabolic profile at 2 and 10 days in preterm neonates with normal/mild and moderate/severe MRI abnormalities at term equivalent age.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Purpose: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet.