Metabolic disorders

Lisa Edelmann, Yaping Yang, Amy C. Yang, Ruth Kornreich

Research output: Chapter in Book/Report/Conference proceedingChapter


Inborn errors of metabolism represent a highly diverse group of genetic disorders. Although individually the disorders are rare, collectively they are estimated to affect as many as 1 in 600 individuals. This chapter discusses the molecular mechanisms of disease and the available genetic testing for selected metabolic disorders. Mutations in many of the metabolic diseases are genetically heterogeneous and diagnoses are still widely dependent on biochemical testing. DNA testing is critical for confirmatory studies, genetic counseling, carrier and prenatal testing, and genotype-phenotype correlation, and is widely used for carrier screening for metabolic disorders in certain populations that have a high frequency of specific mutations due to founder effects. With increasing use of next-generation sequencing technologies in the clinical laboratory, DNA testing for confirmatory studies of all newborn screening positive results likely will be available in the near future.

Original languageEnglish (US)
Title of host publicationMolecular Pathology in Clinical Practice:Second Edition
PublisherSpringer International Publishing
Number of pages15
ISBN (Electronic)9783319196749
ISBN (Print)9783319196732
StatePublished - Jan 1 2016
Externally publishedYes


  • Andersen disease
  • Canavan disease
  • Cori disease
  • Galactosemia
  • Gaucher disease
  • Glycogen storage diseases
  • Hereditary fructose intolerance
  • Inborn errors of metabolism
  • Lysosomal storage disorders
  • Maple syrup urine disease
  • Medium-chain acyl coa dehydrogenase deficiency
  • Molecular testing
  • Newborn screening
  • Ornithine transcarbamylase deficiency
  • Phenylketonuria
  • Pompe disease
  • Tay-Sachs disease
  • Very-long-chain acyl-coa dehydrogenase deficiency
  • Von gierke disease
  • X-linked adrenoleukodystrophy

ASJC Scopus subject areas

  • General Medicine


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