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Table of Contents




A Manual for Primary Care Providers


Developed by Margaret Klehm, Mark Korson, and, Copyright 2014



I. Dedication and comment


II. Introduction: An Overview of Mitochondrial Disease

A. Biochemistry, in brief

B. Physiology, in brief

C. Clinical phenotypes

D. The genetics of mitochondrial disease

E. The diagnostic process

F. The problem in a name

G. An overview of management


III. The Mitochondrial Disease Patient in a Medical Practice

A. Roles of the mitochondrial clinic, the PCP, and other providers - a shared medical home.

B. Developing an understanding of the mitochondrial patient

C. Preparing for a first meeting

D. Taking a history

E. Are the clinician and patient a good match?

F. Helping the clinician/patient to become good evaluators



IV. General Management

A. When the Patient is Well

i. Nutrition

ii. Diet

iii. Fluids

iv. Fasting tolerance

v. Vaccinations

vi. Sleep

vii. Autonomic issues

1. Body temperature

2. Heat and cold intolerance

3. Sweating

4. Skin color changes

5. Heart rate and blood pressure

viii. PROTOCOL - Mitochondrial disease at school (Download)

B. When the Patient is Sick

i. Infections

1. Reaction to Infection

2. Risk Factors for Recurrent Infections

3. Pneumonia and respiratory compromise

4. Urinary tract infections

5. Indwelling central venous catheters and sepsis

6. Fever

7. Assessment

8. Management overview

9. Prevention

10. PROTOCOL - Fever and Infection (in the PCP's office)(Download)

11. PROTOCOL - Fever and Infection (in the ER)(Download)

ii. Vomiting - Protocol (Download)

iii. Anesthesia, Procedures and Surgery

1. PROTOCOL - General surgery and procedures requiring sedation or anesthesia (Download)

2. PROTOCOL - General surgery and procedures requiring sedation or anesthesia when eating or the gut is disrupted (Download)



A. GI/Nutrition

i. Overview

ii. Anorexia and poor feeding

iii. Vomiting

iv. Abdominal pain

v. Constipation and diarrhea

B. Neuromuscular

i. Overview

ii. Developmental delays

iii. Loss of skills/regression

iv. Behavioral issues

v. Fatigue/exercise intolerance

vi. Headache

vii. Abnormal Limb Sensations

viii. Dizziness and Balance problems

ix. Acute Neurologic Deterioration

C. Cardiac

i. Overview

ii. Heart rate abnormalities

D. Renal/bladder

i. Overview

ii. Difficulty voiding or frequency

iii. Urine abnormalities

E. Endocrine

F. Hematologic

G. Immunologic

i. Overview

H. Dermatologic

I. Eyes/vision

J. Hearing

K. Respiratory

i. Overview

ii. Hoarseness

L. Pain in mitochondrial disease



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