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Abstract Ref Number = APCP41
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When to Think Inborn Errors of Metabolism in Neonate
Julius Anzar
DRMOHAMMAD HOESIN HOSPITAL
FACULTY OF MEDICINE SRIWIJAYA UNIVERSITY PALEMBANG
Inborn errors of metabolism (IEMs) are rare diseases. Incidences and prevalences of IEMs vary within different geographical regions and ethnic groups in every country. IEMs in worldwide occur more than 1 per 1000 live births. Clinicians have a tendency to think the possibility of IEMs only after other more common conditions, such sepsis, have excluded. Delayed investigation often occur because of unfamiliar tests requirement to make the diagnosis of IEMs.
Currently IEMs detection presents in two ways, through universal newborn screening and clinical presentation with symptoms and signs. Many IEMs in newborns have a history of acute deterioration after a period of apparent normalcy. IEMs in newborn period may present suddenly, gradually, or insidiously. Severe illness in newborn, regardless of the underlying cause, tends to manifest itself in a rather stereotypic way with relatively nonspecific findings, such as poor feeding, drowsiness, lethargy, hypotonia, and failure to thrive.
IEMs should be considered in any sick neonate with a history of acute deterioration after a period of apparent normalcy, a family history of a similar illness in a sibling or other blood relative, or a history of parental consanguinity. This includes sick neonates with unexplained sepsis-like features. Those commonly describe one of five ‘syndromes’: encephalopathy without metabolic acidosis, encephalopathy with metabolic acidosis, hepatic syndrome, cardiac syndrome or non-immune fetal hydrops.
This paper is aimed to enable general pediatricians to clinically recognize IEMs and plan relevant investigations at the appropriate time in a cost-effective manner, especially in Indonesia where resources are limited. IEMs constitute a group of inherited disorders that cause significant neonatal morbidity and mortality. This diverse group of diseases present with different clinical manifestations that make the diagnosis a real challenge.
Keywords: inborn error, metabolism, neonate, diagnosis
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