Tuesday, September 16, 2014

CPT2 Online Resources -- an incomplete list

Blogs:
http://cpt2kids.blogspot.com/

https://www.youtube.com/channel/UCi0QDhIWGD8sWYyuh6_Mdpw (video blog by a ten year old with LCHAD about low fat cooking).


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Medical:

http://www.newbornscreening.info/Parents/fattyaciddisorders/CPT2.html

National Institutes for Health: http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency

GeneReviews: http://www.ncbi.nlm.nih.gov/books/NBK1253/

Does genetic testing for CPT2: http://www.genedx.com/test-catalog/disorders/carnitine-palmitoyltransferase-ii-cpt2-deficiency/

Article about dietary supplement and CPT2: http://hmg.oxfordjournals.org/content/early/2011/03/04/hmg.ddr089.full.pdf

Very long list of CPT2 research and resources:  https://www.idph.state.ia.us/genetics/common/pdf/cpt2_ref.pdf


List of Resources I found regarding triggers (also contain a lot of good information about CPT2):

Sources:
“FOD” (Fatty Acid Oxidation Disorders support group) =https://www.fodsupport.org/cpt2.htm
“CPTDeficiency” (the CTP2 Deficiency Association) =http://www.cptdeficiency.org/inhoud/attack_triggers_inhoud.htm
“Connecticut” (State of Connecticut Genetics Newborn Screening Program):http://www.ct.gov/dph/lib/dph/family_health/newborn_screening/pdf/hpcptii.pdf
“Wikipedia” (Wikipedia page retrieved 9/2/2014): http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency
“NMD” (Neuromuscular Disorders Journal): http://www.nmd-journal.com/article/S0960-8966(01)00228-0/abstract
“CER” (Clin. Exp. Rheumatol.): http://www.ncbi.nlm.nih.gov/pubmed/11579721
“Annals” (Annals of Internal Medicine): http://annals.org/article.aspx?articleid=691984
“Myopathies” (Myopathies, An Issue of Neurologic Clinics by Mazen Dimachkie, page 788):http://books.google.com/books?id=IiA4BAAAQBAJ&pg=PA788&dq=cpt2+triggers&hl=en&sa=X&ei=t10GVNjkMte4ogSBkIL4Ag&ved=0CCwQ6AEwAg (note that this source also identifies MCT oil and Bezafibrate as improving CPT2 symptoms)
“Muscle Disease” (Muscle Disease: Pathology and Genetics by Goebel, Sewry and Wells, page 266): http://books.google.com/books?id=hyC5UvC5cAAC&pg=PA266&dq=cpt2+triggers&hl=en&sa=X&ei=t10GVNjkMte4ogSBkIL4Ag&ved=0CDIQ6AEwAw (note that this source also identifies Bezafibrate as “shown to restore the capacity for normal fatty acid oxidation in muscle cells”, and recommends MCT oil)
“Lipobiology” (Lipobiology by G.J. van der Vusse, page 306):http://books.google.com/books?id=hyC5UvC5cAAC&pg=PA266&dq=cpt2+triggers&hl=en&sa=X&ei=t10GVNjkMte4ogSBkIL4Ag&ved=0CDIQ6AEwAw
"Washington Neuromuscular" (Washington University, St. Louis, MO Neuromuscular Disease Center): http://neuromuscular.wustl.edu/msys/cardiac.html#cpt2 (note: Provides a detailed list of information about CPT2)
"Orphanet" (Orphanet, portal for rare diseases and orphan drugs): http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=157
"Iowa DPH" (Iowa State Department of Public Health): https://idph.state.ia.us/genetics/common/pdf/cpt2.pdf
"Bonnefont" (Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects by Bonnefont et al.): http://www.carnevalijunior.com.br/wp-content/uploads/2010/03/cpt2001.pdf
Medlink (Medlink Neurology): http://www.medlink.com/medlinkcontent.asp
"Biomed Research" (Journal of Biomedicine and Biotechnology, Vol. 2010, Article ID 340849): http://www.hindawi.com/journals/bmri/2010/340849/ (also provides an easy to understand description of fatty acid metabolism during exercise)
"New England Journal" (New England Journal of Medicine, Feb. 19, 2009 article by Bonnefont, et al.): http://www.nejm.org/doi/full/10.1056/NEJMc0806334
"Genetic Neuromuscular Disorders" (chapter 64):http://link.springer.com/chapter/10.1007/978-3-319-07500-6_64
"OMIM" (Online Mendelian Inheritance in Man online gatalog of human genes and genetic disorders): http://omim.org/entry/255110
"Hippokratia" ("Rhabdomyolysis updated" article): http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2658796/

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