METABOLIC MEDICINE

 Introduction

The rapid deterioration of a previously healthy-appearing neonate is one of the most stressful scenarios in neonatology.
Any infant who presents with feeding difficulties, vomiting, jaundice, failure to thrive, apnea or tachypnea, hypotonia or hypertonia, seizures, lethargy, or coma should be considered as suffering from diseases in one of two broad categories:
1) disorders resulting from causes such as infection, cardiopulmonary dysfunction or other causes of hypoxemia, toxins, trauma, or congenital structural brain abnormalities or
2) disorders caused by an inborn error of metabolism.

The clinician must consider inborn errors of metabolism (IEM) / inborn metabolic disorders (IMD) in all neonates who have nonspecific features of distress upon initial presentation.

Appropriate laboratory investigations should be obtained immediately. Even simple tests such as measurement of blood gases, glucose, electrolytes, lactate, and ammonia and the evaluation of urine for ketones may provide valuable clues to the underlying diagnosis.

Reference: NeoReviews. 2001;2:E183-e191.

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