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INTRODUCTION

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Congenital and acquired metabolic and endocrine disorders cause derangement in normal physiology and metabolism. They include diseases related to electrolyte imbalances, endocrine dysfunction, or inborn errors of metabolism. Overall, the emergency physician and pediatrician most likely will be confronted with more endocrine-related emergencies than metabolic. While most individual metabolic disorders are rare, in the aggregate, inborn errors occur with the same frequency as juvenile diabetes. In the acute phase, endocrine and metabolic emergencies can be life-threatening. In some cases, patients will present without a diagnosis because the underlying disorder remains dormant until the metabolic stress of an acute disorder (eg, fever, trauma, etc.) exceeds the body’s threshold for compensation and thus exacerbates the disease. Expanded newborn screening programs have been started in many countries worldwide, allowing the early diagnosis of several disorders and the prevention of acute episodes of decompensation (that were once catastrophic early in life). Prior to the advent of programs of expanded newborn screening a large number of such infants probably died without the benefit of diagnosis. In some very severe cases, however, life-threatening presentation may precede not only the newborn screening result but also the blood spot collection (typically performed between 24 and 72 hours after birth). An increasing number of patients with late onset of symptoms are also reported. Their clinical presentation including episodic psychiatric disease, movement disorders, and liver dysfunction differs from those with a neonatal disease onset, but again, these patients can be easily missed. Nevertheless, the first episode may be lethal, regardless of age. In addition, late presenting metabolic disorders or some of the ketolytic disorders building diagnostic metabolites only during fasting or acute illness may be missed by newborn screening or in between episodes.1,2 The driving force in the early recognition and treatment of these emergencies is maintaining a suspicion that an endocrine or metabolic disease may be the underlying cause. Episodes of acute illness and metabolic decompensation are often precipitated by acute infection and its attendant catabolism. Catabolism may also be induced by surgery or injury. Such a patient may have cycles of acute illness precipitating admission to the hospital, cessation of feedings, and administration of parenteral fluids and electrolytes with recovery and discharge only to repeat the cycle until the diagnosis is made and appropriate therapy initiated, or the patient dies undiagnosed in such an episode. For diagnostic purposes, appropriate tests should be ordered on critical samples retrieved during the acute phase before treatment. Success with treatable disorders is substantially dependent on rapid and appropriate intervention, and delay may lead to irreversible neurological damage or death.

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Providing a comprehensive list of all the known endocrine and metabolic disorders is beyond the scope of this chapter. Instead, the focus is on selected treatable emergency situations, based on cumulative clinical experience and review of the literature. Long-term specific treatments are described in correspondent chapters. It should be noted that there are no organized clinical studies that have ...

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