Clinical Chemistry

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
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