Introduction to Metabolism

Metabolism 101: Tutorial 1 - Introduction to metabolism

For the non-metabolic

Course Description

Course Title:

Metabolism 101: Introduction to Metabolism for the Non-Metabolic

Program Overview:

This introductory tutorial outlines a classification system for grouping and understanding the inborn errors. Many disorders of basic intermediary metabolism (disorders of protein, carbohydrate and fatty acid metabolism), and the metabolism of complex molecules (e.g., lysosomal storage diseases) are introduced here, showing how they fit into the classification scheme. Interactive case studies allow users to develop the skills to properly recognize and classify common metabolic disorders and identify treatable disorders.

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:

Identify the reasons for “thinking metabolic” in clinical practice
Develop a classification system for thinking about metabolic disease
Recognize how defective intermediary metabolism results in disease

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.

Additional Resources:

GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1116/

Inborn Metabolic Diseases, 5th Edition, Saudubray et al, eds. Springer Berlin Heidelberg, 2012

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

Course Introduction/Objectives
- Course Introduction and Objectives
2

Pre-Course Assessment
- Pre-Course Assessment
3

Chapter 1: Introduction
- Why Think Metabolic?
- Take Home Point #1
- Typical Metabolic History and Exam
4

Chapter 2: Classification of Metabolic Disorders
- Classification of Metabolic Disorders
5

Chapter 3: Intoxication & Energy Metabolism: Protein
- Basic Intermediary Metabolism: Protein
- Anatomy of an Amino Acid and Catabolism
- Hyperammonemia
- The Metabolic Geneticist's Rule and Take Home Point #2
- Organic Acid Metabolic Defects
- Take Home Point #3
- Roadmap: Intermediary Metabolism of Protein
6

Chapter 4: Intoxication & Energy Metabolism: Carbohydrates
- Basic Intermediary Metabolism: Carbohydrates
- Defects in CHO metabolism
- Take Home Point #3 (Updated)
7

Chapter 5: Intoxication & Energy Metabolism: Fatty Acid Oxidation Disorders
- Basic Intermediary Metabolism: Fatty Acid Oxidation Disorders
- Defects in Fatty Acid Metabolism
- Take Home Point #4
- Roadmap: Intermediary Metabolism
- Disorder Characteristics: Intoxication & Energy Metabolism
- Example: PDH Deficiency MRI
- Intermediary Metabolism Disorders: Summary
8

Chapter 6: Disorders of Complex Molecules
- Defects in Complex Molecules
- Lysosomal Storage Disorders
- Peroxisomal Disorders
- Golgi/Endoplasmic Reticulum Disorders
- Dysmorphology in Metabolic Disorders
- Example: Smith-Lemli-Opitz Syndrome
- Example: Zellweger Syndrome
- Disorder Characteristics
9

Case Study 1
- Case Study 1 Scenario
- Case Study 1 Question
- Case Study 1 Analysis
10

Case Study 2
- Case Study 2 Scenario
- Case Study 2 Question
- Case Study 2 Analysis
- Case Study 2 Follow-up Question
- Case Study 2 Follow-up Analysis
11

Case Study 3
- Case Study 3 Scenario
- Case Study 3 Question
- Case Study 3 Analysis
12

Case Study 4
- Case Study 4 Scenario
- Case Study 4 Question
- Case Study 4 Analysis
13

Case Study 5
- Case Study 5 Scenario
- Case Study 5 Question
- Case Study 5 Analysis
14

Patient-as-teacher video
- Introduction
- Patient-as-Teacher Video: PDH Deficiency
15

Essential Slides for Download
- Metabolism 101 Tutorial 1 Essential Slides (pdf)
16

Post Lecture Quiz
- Quiz
17

eLearning Course Survey
- Course survey link

Reviews

Metabolism 102

Reza Davoodi

You have spent lots of time to organize this lecture and you did such an excellent job. This type of lectures are very important for clinicians with little k...

You have spent lots of time to organize this lecture and you did such an excellent job. This type of lectures are very important for clinicians with little knowledge in metabolic diseases and/ or are not specialized in inborn errors of metabolism. Thank you for providing this educational materials for free as no one has any excuse not to watch these series of lectures.