Link To The Best Resources For Learning About Mitochondrial Diseases For Physicians And Patients

This blog is my study notes on medical topics of interest to me. I treat adult and pediatric patients. And posting the notes in this content management system (WordPress) makes it easy for me to search the contents of the blog.

What follows are some resources that I think will be helpful to both primary care physicians and to patients who are concerned about the possibility of mitochondrial disease.

However, if you are concerned that you or a family member may have a mitochondrial disease, I would strongly suggest that you share your concern with your primary care physician before you begin your internet medical research on this complex and somewhat confusing topic. He or she can help guide you in your quest for a diagnosis.

As a primary care adult and pediatric physician, I would advise my patient or parent to seek a consultation at a tertiary care pediatric or adult medical center. I would not, except in very unusual circumstances, initiate the laboratory or imaging tests because those specialized tests are often best done at a tertiary care center. If the patient were acutely ill I would, in that case, initiate an evaluation and close monitoring as I arranged for further immediate evaluation at the tertiary care center.

If you want a simple introduction to mitochondrial disease, I’d recommend visiting the websiteof United Mitochondrial Disease Foundation (UMDF). The three pages of the site that I would recommend to get started are:

An excellent article for both physicians and patients is Mitochondrial Diseases by Dr. Amy Goldstein (Director, Neurogenetics and Metabolism, Children’s Hospital of Pittsburgh of UPMC Assistant Professor of Pediatrics, University of Pittsburgh School of Medicine) on the Child Neurology Foundation website.

I strongly urge any physician or patient wanting an outstanding understandable introduction to metabolic disease review Dr. Goldstein’s article. And I believe that a primary care physician would benefit from reading that article more than once.

I have not included anything from the above article in the above post because the whole article needs to be reviewed if you are interested in mitochondrial disease.

The following are a list of links to articles on mitochondrial disease from a search of PubMed.


Haas RH, P S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen BH. Mitochondrial Disease: A practical approach for primary care physicians. Pediatrics. 2007 [PubMed Abstract]

The In-Depth Evaluation of Suspected Mitochondrial Disease: The Mitochondrial Medicine Society’s Committee on Diagnosis [PubMed Abstract] [Full Text HTML] [Link to Download Full Text PDF]. Mol Genet Metab. 2008 May;94(1):16-37. doi: 10.1016/j.ymgme.2007.11.018. Epub 2008 Feb 1.

[Links From PubMed To Similar Articles As The Above. There were 87 when I accessed the list on 4-16-2017. And of these thirteen were available free full text.]

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