INBORN ERRORS OF METABOLISM I (MLS)
Learning Lab for Medical Laboratory Scientists
Author information
Roy Peake, PhD
Dr Peake disclosed no conflict of interest
Learning objectives:
- Understand the classification of inborn errors of metabolism
- Describe phenotype spectrum of inborn errors of metabolism
- Describe clinical presentation of inborn errors of metabolism
- Detail the genetics of inborn errors of metabolism
- Describe laboratory investigation of inborn errors of metabolism
- Recognize newborn screening for inborn errors of metabolism
- Analyze methods used in the biochemical genetics laboratory
Clinical Chemistry
