Course Description

Course Title:

Metabolism 101: A Biochemical Approach to Diagnosis

Program Overview:

The clinical presentation of metabolic disease can sometimes include a significant biochemical abnormality, and this laboratory finding can be a primary indicator in pointing the way to a diagnosis. A physiologic understanding of metabolic acidosis, hyperammonemia and hypoglycemia is provided, along with the role they play in metabolic medicine. A simplified diagnostic algorithm is identified for each finding, enabling the user to take advantage of the biochemical finding as a diagnostic tool. Users learn to develop a diagnostic approach for the biochemical symptoms based on clinical observation and routine laboratory test and apply their knowledge to clinical scenarios through interactive case studies.


Mark Korson, MD - Senior Medical Director - Genetic Metabolic Center for Education

Important Dates:

Valid Until: 12/01/2019
Date Released: 12/01/2016
Date Updated: 12/01/2016

Fee Statement:

This activity if FREE to all participants

Commercial Support:

This enduring internet activity has no commercial support

Learning Objectives:

1.Review the causes of metabolic acidosis, hyperammonemia and hypoglycemia.

2.Develop a diagnostic approach for these biochemical symptoms based on clinical observation and routine laboratory test.

3.Apply the principles to cases of inborn errors of metabolism.

Disclosure Statement:

The information on this website is provided exclusively for educational purposes. Information about medicine is ever changing. As new research and clinical experience broadens knowledge, changes in treatment and procedures will be necessary.

Faculty Disclosure:

The listed speaker has no real or apparent conflict of interest to disclose.

Planning Committee Disclosure:

The members of the planning committee have no real or apparent conflict of interest to disclose.

Instruction for Completion:

To receive credit for this unit, view the video files and complete all survey questions. It will take approximately 60 minutes to complete. When you have finished, complete the post-test. Upon scoring at least 70% on the post-test and completion of the evaluation you will be able download your CME/CE certificate.

Clinicians who are not physicians will be provided a certificate of completion to submit for credit in accordance with their state nursing board, specialty society, or other professional association.

Additional Resources:

  • Inborn Metabolic Diseases, 5th Edition, Saudubray et al, eds. Springer Berlin Heidelberg, 2012
  • Vademecum Metabolicum, Diagnosis and Treatment of Inborn Errors of Metabolism, Zschocke J and Hoffman GF, eds. van Karnebeek C, e-ed. Downloadable app - eVm Mobile

MD, Senior Medical Director

Mark Korson

Dr. Mark Korson is Medical Director of the Genetic Metabolic Center for Education and is responsible for overseeing both the company’s consultative services and educational content together with a team of biochemical geneticists.Dr. Korson previously served as Metabolism Service Director (2000-2014) at Tufts Medical Center, where he launched the Metabolic Outreach Service to aid regional teaching hospitals lacking metabolic services. This program educated and advised non-metabolic clinicians, enabling greater participation in the care of metabolic patients.Since 2007, he has co-directed the North American Metabolic Academy, the premier training conference for genetic trainees on this continent, sponsored by the Society for Inherited Metabolic Disorders. He has given hundreds of lectures in the US and abroad, including Cyprus, Great Britain, Israel, Jordan, Malaysia, and most recently, the Republic of Georgia.Dr. Korson graduated from University of Toronto Medical School and completed pediatric residency at The Hospital for Sick Children. After a fellowship in genetics and metabolism in 1990 he directed the Metabolism Clinic until 2000 at Boston Children’s Hospital.

Course curriculum

  • 1

    Introduction/Course Objectives

    • Introduction and objectives

  • 2

    Pre-course assessment

    • Pre-course assessment

  • 3

    Chapter 1: Metabolic acidosis

    • An overview

    • Anion gap

    • Testing in a metabolic crisis

    • An approach to metabolic acidosis

  • 4

    Chapter 2: Hyperammonemia

    • An overview

    • What is a normal ammonia level?

    • An approach to hyperammonemia

  • 5

    Chapter 3: Hypoglycemia

    • An expectation

    • Hypoglycemia in neonates

    • Hypoketotic hypoglycemia

    • An approach to hypoglycemia

  • 6

    Chapter 4: Case studies

    • Disclaimer

    • Case study 1 scenario

    • Case study 1 analysis sheet

    • Case study 1 analysis

    • Case study 2 scenario

    • Case study 2 analysis sheet

    • Case study 2 analysis

    • Case study 3 scenario

    • Case study 3 analysis sheet

    • Case study 3 analysis

    • Case study 4 scenario

    • Case study 4 analysis sheet

    • Case study 4 analysis

    • Case study 5 scenario

    • Case study 5 analysis sheet

    • Case study 5 analysis

  • 7


    • Summary

  • 8

    Post-course quiz

    • Post-course quiz

  • 9

    Essential slides for download

    • Tutorial 3 Essential slides for download

  • 10

    eLearning course survey

    • course survey link


5 star rating

Describes the chapter perfectly

Denise Fleming

The text is clear and informative.

The text is clear and informative.

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