Course Description

Course Title:

Metabolism 101: Emergency Management of Metabolic Disease

Program Overview:

The final tutorial in the “Metabolism 101” series reviews the physiologic and biochemical causes of a metabolic crisis since these also project opportunities for treatment. These include the toxicity from accumulating compounds, a deficiency of products, an overall deficiency of energy, associated metabolic disturbances, the role of the factors that trigger a crisis, and the morbidity and potential mortality that can occur because of iatrogenic complications. With this background, treatment strategies are proposed and the users are provided a number of cases for which to develop sample orders.

Faculty:

Georgianne Arnold, MD - Associate 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.Identify the various components of a metabolic crisis, including:

a.Toxicity from accumulating compounds

b.Product deficiency

c.Energy deficiency

d.Secondary metabolic disturbances

e.Trigger(s) of the crisis

f.Iatrogenic complications

2.Describe the treatment strategies for each component

3.Apply these treatment principles to case studies


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. 


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:




Schwartz IV, de Souza CF, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr (Rio J). 2008;84(4 Suppl):S8-19.
The Online Metabolic and Molecular Bases of Inherited Disease, Scriver et al, eds. McGraw-Hill

MD, Associate Medical Director

Georgianne Arnold

Dr. Georgianne Arnold is Associate Medical Director of the Genetic Metabolic Center for Education and is active in both the consultative servicesand educational programs.Dr. Arnold previously served as Professor of Pediatrics as well as Clinical Director of the Division of Medical Genetics (2010 – 2016) at the University of Pittsburgh Medical Center. She brings 25 years of experience in the diagnosis and care of patients with inborn errors of metabolism. She has extensive experience in teaching including students, residents and faculty, and was a charter faculty member at the North American Metabolic Academy (the premier training conference for genetic trainees on this continent).Dr. Arnold has published more than 50 peer reviewed articles and book chapters, has presented papers at national and international meetings, and was awarded the Shapira Award in 2010 for “A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.” She is sought after as a teacher with a gift for making metabolism understandable for all audiences.Dr. Arnold graduated from SUNY Upstate Medical University and and completed pediatric residency at Children’s Memorial Hospital at Nothwestern University. She completed her fellowship in genetics and metabolism in 1991 at the University of Colorado. She was Associate Professor of Pediatrics at the University of Rochester School of Medicine and Dentistry until 2010 where she directed care for patients with metabolic and genetic disorders.

Course curriculum

  • 1

    Tutorial 4 introduction and objectives

    • Tutorial 4 introduction and objectives
  • 2

    Pre-course assessment

    • Pre-course assessment questions 1 and 2 chemical reaction

    • Pre-course assessment
  • 3

    Chapter 1: The metabolic crisis: a review

    • Clinical signs/biochemical features

    • Components of an acute crisis
  • 4

    Chapter 2: Reducing toxicity from accumulating compounds by decreasing toxin production

    • Methylmalonic acidemia

    • Decreasing toxin production

    • Application of principals to treatment

    • Use of dextrose

    • Take home point #1

    • Enzyme cofactors

    • Take home point #2

    • Chapter 2 example question

    • Chapter 2 example question - interactive

    • Chapter 2 example answer
  • 5

    Chapter 3: Reducing toxicity from accumulating compounds by removing the toxin

    • Direct removal of toxin

    • Shunt toxin into alternative pathway

    • Take home point #3

    • Chapter 3 case study

    • Chapter 3 case study - interactive

    • Chapter 3 case study analysis
  • 6

    Chapter 4: Problems caused by product deficiency

    • L-arginine and urea cycle disorders

    • Biotinidase deficiency

    • Long chain fatty acid oxidation defects

    • nAGS deficiency

    • Take home point #4 and chapter summary
  • 7

    Chapter 5: Overall energy deficiency

    • Primary defects in energy production

    • Treatment of primary defects in energy production

    • Indirect defects of energy deficiency

    • Take home point #5 and chapter summary
  • 8

    Chapter 6: Deleterious impact from acidosis, hypoglycemia, hypperammonemia

    • Acidosis

    • Hypoglycemia

    • Hyperammonemia

    • Tutorial 4 Chapter 6 Take Home 6 and Summary
  • 9

    Chapter 7: Impact from triggers of the crisis

    • Common triggers of the crisis and treatment

    • Take home point #7 and chapter summary

  • 10

    Chapter 8: Iatrogenic worsening of the crisis

    • Summary, causes and apparent treatment failure

    • Take home point #8 and caution
  • 11

    Chapter 9: Application of treatment principles to case studies

    • Managing the patient
  • 12

    Chapter 10: Case study 1

    • Case study 1: scenario

    • Case study 1 question - interactive

    • Case study 1 - answer and analysis

    • Case study 1 - writing orders

    • Case study 1 - writing orders exercise

    • Case study 1 - writing orders analysis
  • 13

    Chapter 10: Case study 2

    • Case study 2 - scenario

    • Case study 2 question - interactive

    • Case study 2 - answer and analysis

    • Case study 2 - writing orders exercise

    • Case study 2 - writing orders analysis
  • 14

    Chapter 10: Case study 3

    • Case study 3 - scenario

    • Case study 3 question - interactive

    • Case study 3 - answer and analysis

    • Case study 3 - writing orders exercise

    • Case study 3 - writing orders analysis
  • 15

    Chapter 11: Tutorial 4 Summary

    • Tutorial 4 summary
  • 16

    Patient-as-teacher video

    • Introduction to video

    • Tasia: VLCAD patient
  • 17

    Essential slides for download

    • Tutorial 4 essential slides for download
  • 18

    Post lecture quiz

    • Post-course quiz questions 1 and 2 chemical reaction

    • Post-course quiz
  • 19

    eLearning course survey

    • Course survey link

Reviews

5 star rating

maryam bawazir

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5 star rating

Very useful course!!!

Tinatin Tkemaladze

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4 star rating

OK

Michael Schneider

No clear guidelines for hyperammonemic dialysis (coma versus NH3 level) Urine ketones may be lagging indicator of metabolic response in organic academia Ro...

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No clear guidelines for hyperammonemic dialysis (coma versus NH3 level) Urine ketones may be lagging indicator of metabolic response in organic academia Role of MRI, saline bolus in organic acidemias unclear

Read Less