- Urgent Info for the ER Clinician
- Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders – IMPORTANT Overview
- Genetic Metabolic Center for Education ~ Consulting and Educational services
- Newborn Screening Labs & Metabolic Diagnostic Labs/Clinics
- Find a US Genetic Service
- How can I find genetic Professional in my area
- Metabolic Clinics in Canada
- UK Genetic Centers
- Diagnostic Approach to Disorders of Fat Oxidation
- Acylcarnitine Analysis Using Tandem Mass Spectrometry: Reliability and Specificity
- Distinction between: Supplemental Newborn Screening for amino acids and acylcarnitines by tandem MS and Quantitative Acylcarnitine Profile by tandem MS for Patients with Clinical Symptoms
- Acylcarnitine Profile Analysis
- Newborn Screening terminology guide & codes
- Prenatal Diagnosis of Disorders of Fatty Acid Transport and Mitochondrial Oxidation
- Diagnosing and Treating Mitochondrial Diseases (video)
- NORD’s Physician Guide to Mitochondrial Myopathies
- Emergency Management of Metabolic Crisis (slideshows)
- Diagnostic Lab tests suggested for mitochondrial and/or Fatty acid Oxidation Disorders
- Mitochondrial Global Networks
- List of meds for Mito (and FOD) patients to use with CAUTION
- Anesthesia Concerns: Propofol Infusion Syndrome
- Along with avoiding fat binding/delivery/producing anesthetics, FOD experts state to avoid lactated ringers, long term use of steroid meds, and aspirin. Each child/adult FOD emergency protocol should be individualized with other pertinent allergies, meds, etc and mitigating factors taken into account.
- Mitoaction.org forms Advocacy Task Force to address FALSE Munchausen allegations and Medical Child Abuse
- Society for Inherited Metabolic Disease membership listing/emails
- International Network for Fatty acid Oxidation Research & Management
- FDA approves c7 as drug Dojolvi
*** Please Note: The expanded Newborn Screen test may detect or ‘red flag’ several FODs, as well as many other metabolic disorders ~ however, the enbs is not 100% definitive and it is DIFFERENT than the Diagnostic acylcarnitine profile test that is often used to specifically diagnose FODs (*see article below – other diagnostic tests are used as well to give a more complete picture, since the profile can also come back inconclusive or normal, especially if the blood was taken when the child/adult was well).
There is also the possiblity of false positives and false negatives with the newborn screen test. It is very important, especially after a false negative, if your child experiences symptoms such as lethargy, low muscle tone, low blood sugars, chronic illnesses, seizures etc, that you INSIST on pursuing Diagnostic testing, and not just another newborn screen test. Your Dr can inquire about what other tests might be suggested (ie., acylcarnitine profile, plasma carnitine levels, urine organic acids, DNA testing) and types of specimens needed (blood or urine, skin or muscle biopsy, amniocytes, postmortem tissues) to further assist in the diagnostic evaluation of FODs for children and adults.