Emergency treatments

Abstract

As soon as the diagnosis of a metabolic disorder is suspected a plan for the emergency management should be made. As stated in Chap. 1, both the presentation and management mainly depend on the pathophysiology involved. This chapter focuses on the main clinical presentations in neonates and children for those inborn errors of metabolism for which emergency treatment may be life saving and outlines the first steps of such treatment until the definite diagnosis is known. The subsequent management of patients is addressed in the specific chapters. In neonates, the main clinical presentations are as follows: 1. Neurological deterioration: This is the commonest presentation and most often caused by maple syrup urine disease (MSUD), branched-chain organic acidurias (BCOAs), and urea-cycle defects (UCDs). Treatment must be started immediately to avoid severe cerebral sequelae. 2. Liver failure: Galactosemia, hereditary fructose intolerance, and tyrosinemia type I are amenable to emergency treatment. 3. Hypoglycemia: Blood glucose levels must be corrected immediately. The three groups of disorders usually implicated are hyperinsulinism, glycogen storage disease (GSD), and mitochondrial -oxidation defects. 4. Cardiac failure: In neonates the only treatable disorders are fatty-acid-oxidation defects. 5. Primary hyperlactatemia: This is associated with a general lack of cellular energy and may be due to different enzymatic defects. Some patients may benefit from high dose vitamin treatment. 6. Intractable convulsions: Vitamin responsiveness (pyridoxine, pyridoxal phosphate, folinic acid, biotin) must be assessed systematically. In older children all these clinical situations can also arise. Any type of coma or acute psychiatric symptoms can, in particular, be the presenting sign of a metabolic disorder. In addition, children may present with recurrent attacks of unexplained dehydration, abdominal pain, muscle pain and myolysis, or peripheral neuropathy. Such situations require careful and urgent biochemical investigation. Emergency treatment should be started concurrently and subsequently modified accordingly. Good collaboration with the metabolic laboratory is indispensable. The results of all laboratory investigations relevant to the diagnosis of metabolic disorders for which specific emergency therapy exists should be available within 24 h.