<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Background</h3>
<p>The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requiring admission to the paediatric intensive care unit in a Portuguese reference centre for inherited metabolic diseases.</p>
</sec>
<sec><h3>Material and methods</h3>
<p>An observational study with retrospective data collection was performed, including all newborns with an inherited metabolic disease admitted to the pediatric intensive care unit between June 2011 and June 2022. Three ‘pathophysiological’ groups were defined: cases due to small molecules, energy deficiency and complex molecules.</p>
</sec>
<sec><h3>Results</h3>
<p>Twenty newborns, with a median age at admission of 7.5 days, were included. Thirteen (65%) were female, sixteen (80%) had a small molecule disorder, and four (20%) had diseases of energy defects. Neurological manifestations were the most common, with most newborns presenting symptomatically in the first week of life. There was no difference between the groups in neurological, cardiac, and hepatic involvement and shock at presentation. A symptom-free interval was more frequent in patients with small molecule disorders than the others (p=0.01). The main metabolic changes found were altered plasma amino acids (n=13) and organic aciduria (n=10), creatine kinase elevation (n=13), hyperlactatemia (n=12), metabolic acidosis with increased anion gap (n=8) and hyperammonaemia (n=7). Newborn screening of metabolites helped make a diagnosis in 60% of cases.</p>
<p>Five newborns died due to multiorgan failure (n=3) or refractory cardiogenic shock (n=1), and in one, therapeutic efforts were limited due to an adverse neurological prognosis.</p>
</sec>
<sec><h3>Conclusion</h3>
<p>Although the symptoms and signs are often nonspecific, we should suspect inherited metabolic disease when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. Newborns with suspected inherited metabolic disease should be evaluated with simple biochemical tests, and newborn screening should be urgently expanded to start specific treatment earlier, reducing mortality and morbidity.</p>
</sec>
</abstract>

Background
The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requiring admission to the paediatric intensive care unit in a Portuguese reference centre for inherited metabolic diseases.

Material and methods
An observational study with retrospective data collection was performed, including all newborns with an inherited metabolic disease admitted to the pediatric intensive care unit between June 2011 and June 2022. Three ‘pathophysiological’ groups were defined: cases due to small molecules, energy deficiency and complex molecules.

Results
Twenty newborns, with a median age at admission of 7.5 days, were included. Thirteen (65%) were female, sixteen (80%) had a small molecule disorder, and four (20%) had diseases of energy defects. Neurological manifestations were the most common, with most newborns presenting symptomatically in the first week of life. There was no difference between the groups in neurological, cardiac, and hepatic involvement and shock at presentation. A symptom-free interval was more frequent in patients with small molecule disorders than the others (p=0.01). The main metabolic changes found were altered plasma amino acids (n=13) and organic aciduria (n=10), creatine kinase elevation (n=13), hyperlactatemia (n=12), metabolic acidosis with increased anion gap (n=8) and hyperammonaemia (n=7). Newborn screening of metabolites helped make a diagnosis in 60% of cases.
Five newborns died due to multiorgan failure (n=3) or refractory cardiogenic shock (n=1), and in one, therapeutic efforts were limited due to an adverse neurological prognosis.

Conclusion
Although the symptoms and signs are often nonspecific, we should suspect inherited metabolic disease when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. Newborns with suspected inherited metabolic disease should be evaluated with simple biochemical tests, and newborn screening should be urgently expanded to start specific treatment earlier, reducing mortality and morbidity.

Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

Pediatric Intensive Care Unit, Pediatric Hospital

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution 4.0 International License.

Background
The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific...

Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

Article Category: Original article

Published Online: Oct 16, 2023

Page range: 55 - 63

Received: Feb 05, 2023

Accepted: Jun 11, 2023

DOI: https://doi.org/10.34763/jmotherandchild.20232701.d-23-00021

Keywords
Inborn errors of metabolism, metabolism, paediatric intensive care unit, hyperlactatemia, coma, newborn

© 2023 Catarina Teixeira et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

Article Category: Original article

Published Online: Oct 16, 2023

Page range: 55 - 63

Received: Feb 05, 2023

Accepted: Jun 11, 2023

DOI: https://doi.org/10.34763/jmotherandchild.20232701.d-23-00021

KeywordsInborn errors of metabolism, metabolism, paediatric intensive care unit, hyperlactatemia, coma, newborn

© 2023 Catarina Teixeira et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Keywords
Inborn errors of metabolism, metabolism, paediatric intensive care unit, hyperlactatemia, coma, newborn