Abstract
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 language | English (US) |
|---|---|
| Title of host publication | Molecular Pathology in Clinical Practice:Second Edition |
| Publisher | Springer International Publishing |
| Pages | 161-175 |
| Number of pages | 15 |
| ISBN (Electronic) | 9783319196749 |
| ISBN (Print) | 9783319196732 |
| DOIs | |
| State | Published - Jan 1 2016 |
| Externally published | Yes |
Keywords
- 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