Receiving a diagnosis for a rare genetic metabolic deficiency can be very frightening for a family, especially if they know nothing about the disorder. Gaining information about an FOD is a positive step toward easing some of that fear ~ you have to know what you’re dealing with medically before you can put all other ramifications in perspective. It IS possible to live a long and healthy life with an FOD ~ the KEY is diagnosing/treating it as early as possible ~ and with FODs now being screened for at BIRTH in many states/countries, more and more babies’ lives are being saved!
Although each FOD child/adult, even within the same family, can respond and present differently with a particular disorder, there are some similarities among all the FODs. Also keep in mind there is no ONE blanket presentation for FODs ~ and even if the initial acylcarnitine profile comes back looking normal or inconclusive one can still have an FOD. The best time to take the blood/urine tests is when one is ill/in crisis. If blood is taken when well it can sometimes come back as normal.
We hope that by reading this section it will help you begin to understand how an FOD affects the body metabolically, the current treatment procedures, the ongoing research studies available to FOD families, as well as some of the other life issues that impact an affected family. [Please note that FODs are NOTthe same type of disorders as Adrenoleukodystrophies (ie., ALD – even though they also involve fatty acids as do the FODs), which is often associated with ‘Lorenzo’s Oil.’ ]
Metabolic Clinical Centers and Info
- US Genetic Services
- European Metabolic Clinic search
- UK Genetic Centers
- USA Hospitals
- Worldwide Hospital search
- Find a Metabolic Dietitian
- New England Consortium of Metabolic Programs
- California Special Care Center Directory
- NIH Clinical Studies for Metabolic Disorders [can also search for specific FOD trials by keywords]
- NBS Labs & Metabolic Diagnostic Labs/Clinics
- Listing of some Genetic/Metabolic Drs across the world
- Mitochondrial Global Networks
- Diagnosing Fatty acid Oxidation Disorders (click each disorder)
- Preparing for your Hospital Appointment [MetabolicSupport UK]
Carnitine Information
- Patient Assistance Programs (NORD) – for medications, clinical trials etc
- Carnitine Supplementation and VLCAD Deficiency (PDF)
- Be On Alert! Major Differences Between the Drug Carnitor® and the Health Food Version of Carnitine!
- Carnitine Therapy for Fatty Acid Oxidation Defects (PDF)
Medical Articles
- Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15years Experience
- Evaluation and Treatment of Patients with Autism and Mitochondrial Disease
- The Use of Vitamin E in Mitochondrial Antioxidant Cocktails
- Kupffer cells modulate hepatic fatty acid oxidation during infection with
PR8 influenza - Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
- Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy
- Adult polyglucosan body disease (APBD): Anaplerotic diet therapy (triheptanoin) and demonstration of defective methylation pathways
- Choice of oils for essential fat supplements can enhance production 3 of abnormal metabolites in fat oxidation disorders
- Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) defciency
- Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) defciency
- Fetal Fatty Acid Oxidation Defects and Maternal Liver Disease in Pregnancy
- Short-chain acyl CoA dehydrogenase gene mutation (319C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population
- Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA
dehyrogenase deficiency: data from a cohort
study - Treatment of Cardiomyopathy and Rhabdomyolysis
in Long-Chain Fat Oxidation Disorders Using an Anaplerotic Odd-Chain Triglyceride (PDF) - HELLP Syndrome (Acute fatty liver during pregnancy)
- Death Caused by Perioperative Fasting and Sedation in a Child with Unrecognized VLCAD
- MCAD: Sudden and Unexpected Death of a 45-year-old Woman
- Fatty acid Oxidation Defects as a Cause of SIDS
- Genetic Deficiency May Explain Sudden Infant Death Syndrome
- Diagnosis of VLCAD from an Infant’s NBS Card
- Molecular and Phenotypic Heterogeneity in Mitochondrial Trifunctional Protein Deficiency Due To b-Subunit Mutations (PDF)
- Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases (PDF)
- MS/MS-Based Newborn and Family Screening Detects Asymptomatic Patients with Very-Long-Chain ACYL-COA Dehydrogenase Deficiency (PDF)
- Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in Mice (PDF)
- General Mitochondrial Trifunctional Protein (TFP) Deficiency as a Result of Either-or-Subunit Mutations Exhibits Similar Phenotypes Because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover (PDF)
- Peripheral Neuropathy, Episodic Myoglobinuria, and Respiratory Failure in Deficiency of the Mitochondrial Trifunctional Protein (PDF)
- Post-mortem MRI reveals CPT 2 deficiency after sudden infant death (PDF)
Related Informational Articles
- 2019 Updated Nutritional Guidelines for VLCAD
- A Modern Approach to the Treatment of Mitochondrial Disease (PDF)
- My Experiences and Understanding of VLCAD Deficiency and its Treatment (PDF)
- Acylcarnitine Profile Analysis
- Carbohydrate Metabolism and Blood Sugar Monitoring
- Exercise and Mito
- Heat Intolerance and Related info (from mitoaction.org)
- A Rough Guide to Acylcarnitines and Profiles of various metabolic disorders
- Child and family experiences with inborn errors of metabolism:
a qualitative interview study with representatives of patient
groups - Lipid Storage Myopathies
- Managing Acute Gastroenteritis Among Children (PDF)
- Coenzyme Q10 in the Treatment of Mitochondrial Disorders (PDF)
- Nutrition and Fatty Oxidation Defects (PDF)
- Cyclic Vomiting in Mitochondrial Diseases (PDF)
- Facts about Mitochondrial Myopathies
- Facts about Metabolic Disease
FOD Research Studies
- Reneo Pharmaceuticals Clinical Trial for FODs and Interview with Dr Alex Dorenbaum, Chief Medical Officer
- Jan 2019: OHSU FAOD and Insulin Sensitivity study
- 78-week data from the Phase 2 study of UX007
- NIH Mini Study ~ Flu Season Guide
- CPT II Research Study for Infants/Children and Adults
- FODs and Cholesterol Drugs Study
- Training the Next Generation of Child Neurologists: A Child-Health Based Approach
- DHA Supplementation in LCHAD – July 2005 Update
- MCAD Study of 120 children (older study before ENBS enacted)
- Treatment Protocol for Inherited Disorders of Fat Oxidation – Dr Roe is now retired and the Institute no longer clinically treats FOD patients. Dr Vockley (Children’s Hosp of Pittsburgh) has taken over the c7 protocol for ONLY those with long chain FODs – No new patients are being accepted
- Vanderbilt University Lab Research Update
- FODs and Pregnancy Research (PDF*) [see published article below]
- Fetal Fatty Acid Oxidation Defects and Maternal Liver Disease in Pregnancy
- Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency
- Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency