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Inherited

Metabolic Disorders

The classical inherited metabolic disorders, or inborn errors of metabolism, are enzyme defects in the metabolism or breakdown of amino acids (protein building blocks), carbohydrates or complex sugars, fatty acids, or mitochondrial energy production. Many of them are readily diagnosed with basic blood and urine metabolic testing looking for the accumulation or depletion of various compounds surrounding the enzyme block. These studies include lactate and pyruvate levels, ammonia, plasma and urine amino acids, urine organic acids, carnitine and acylcarnitine profiles. Other inborn errors require more complex and sometimes more invasive testing such as specific DNA gene testing or muscle biopsy for myopathies including mitochondrial disorders. In general, they all require the expertise of a metabolic specialist to put all the pieces of the puzzle together into a recognizable picture.

Lectures & Presentations

The following is an incomplete list of extensive Lectures and Presentations made over the years by Dr Kendall. Please contact us for a complete listing as some do not have audio or video.

 

Do I Have Mitochondrial Diease?

Presented online as a podcast to MitoAction members.

Click here for the audio
or
go to Itunes
podcasts/MitoAction

Bridging the Gap Between ASD (Autism Spectrum Disorder) and Mitochondrial Disease

Presented online as a podcast to MitoAction members.

Click here for the audio
or
go to Itunes
podcasts/MitoAction

Bridging the Gap Between ASD and Mitochondrial Disease

Presented at the AutismOne International Conference, Chicago, IL

Audio to come

Muscle Biopsies and Their Utitlization in the Diagnoses of Mitochondrial Diease

Presented online as a podcast to MitoAction members.

Click here for the audio
or
go to Itunes
podcasts/MitoAction

Muscle Biopsy Testing
Audio Only

Presented online to MitoAction members. For many years, muscle biopsy has been considered the best way to obtain an accurate diagnosis of mitochondrial disease but much is changing.

Dr Fran Kendall on Dosing Debate - CoQ10 & Creatine in Mitochondrial Disorders - audio onlyMP3 for audio players

Synopsis of Dr Fran Kendall on Dosing Debate - CoQ10 & Creatine in Mitochondrial Disorders PDF Synopsis download

Mitochondrial Disease & Its Association with Autism: A General Overview
Slideshow with Audio

Presented to Autism Support Meeting at Emory John's Creek Hospital, John's Creek, GA

Mitochondrial Disease & Autism Presentation by Dr Fran Kendall - for on screen viewing wmv for screen viewing

Mitochondrial Disease & Autism Presentation by Dr Fran Kendall - for mobile devices MP4 for mobile devices

Mitochondrial: Our Bodies' Powerplants
Slideshow with Audio

Presented to Georgia School Nurses. Nell Hodgson Woodruff School of Nursing, Children’s Healthcare of Atlanta & Emory University

The Dosing Debate: CoQ10 and Creatine in Mitochondrial Disorders
Audio Only

Presented online to MitoAction members

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