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Inborn Errors of Metabolism

Part 1: Overview

Abbreviations: CDG: congenital disorders of glycosylation • GSD: glycogen storage disease • KGDH: alpha-ketoglutarate dehydrogenase • MPS: mucopolysaccharidosis • MRI: magnetic resonance imaging • OXPHOS: oxidative phosphorylation • PCD: pyruvate carboxylase deficiency • PDD: pyruvate dehydrogenase deficiency

The first 300 words of the full text of this article appear below.

	Objectives

 
After completing this article, readers should be able to:

1. Recognize the signs and symptoms that are suggestive of an inborn error of metabolism.
   
2. Describe the characteristics of different classes of metabolic syndromes.
   
3. Formulate a logical diagnostic approach to determining which specific condition is present when an inborn error of metabolism is suspected.
   
4. Delineate the value and scope of newborn screening programs.
   
5. Be aware of treatment modalities for inborn errors of metabolism.
   

	Introduction

 
As hospitalizations for traditional pediatric illnesses have declined during the last century, due primarily to improved treatment of infectious diseases, the contribution of other disorders has gained prominence. Biochemical genetics, with its various inherited metabolic disorders (inborn errors of metabolism), has become more important in the routine care of hospitalized pediatric patients. Newborn screening also is contributing to the increased awareness of inherited metabolic disorders. Only a few years ago, most states tested for only as many as eight disorders, generally including phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, biotinidase deficiency, sickle cell disease, hypothyroidism, and congenital adrenal hyperplasia. Recent changes in technology have permitted an increase in the number of disorders tested. A national panel has recommended expanding the testing to 29 disorders, but many states already have begun to screen for more than 40 different disorders with the new technology of tandem mass spectrometry. This expanding list includes amino acid disorders, organic acid disorders, urea cycle diseases, and fatty acid oxidation defects. Some states are working to add lysosomal storage diseases and peroxisomal disorders to their newborn screening panels.

Pediatricians need to recognize and become familiar with these diseases not only to help with the diagnosis but also to help educate parents and advocate for patients. Some patients may fall ill with inherited metabolic disorders not currently detected by newborn screening; others may have conditions that were . . . [Full Text of this Article]

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