INFORM

Join?MitoAction,?on November 1, 2024, at 12 pm EST?and?Dr. Jirair Bedoyan, Director of the?Clinical Biochemical Genetics Fellowship Program and Medical Genetics Clinical Research at UPMC?Children's?Hospital of Pittsburgh,?as we?explore,?“Pyruvate Dehydrogenase Complex Deficiency Essentials: including current trials/research and prospects for newborn screening.” ? Dr. Bedoyan will present the essentials for understanding pyruvate dehydrogenase complex deficiency (PDCD) and detail current clinical trials and therapeutics research for this disorder at UPMC?Children’s?Hospital of Pittsburgh. He will also describe the elements of newborn screening (NBS) and update the audience about current research and prospects for future PDCD newborn screening. Click the link below to register! https://lnkd.in/eJpQZHB3

Check out our new article: Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy. Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who?were diagnosed?via NBS or family history. Click the link below to read the full article. https://lnkd.in/e8sjXDf7 #raredisease #geneticdisorder?#INFORMNetwork #healthconcerns #CACTdeficiency #FAOD?#research #network

INFORM Q&A Question: My daughter is 21 has MCAD and is currently newly pregnant she is struggling with keeping food down. The doctors said Zofran was safe for the baby for her to take. Is there research on how to treat an MCAD pregnant female? Answer: There is not so much research as experience in treating patients with MCAD deficiency who are pregnant. As your daughter has learned, the common nausea of pregnancy that is difficult for anyone to tolerate is that much more of a risk in the face of MCAD deficiency. The key is keeping down calories and fluids in any way possible. Read the full answer here: https://lnkd.in/e2bN7W2g #raredisease #geneticdisorder #INFORMNetwork #healthconcerns #CACTdeficiency #FAOD #research #network

INFORM Q&A Question: I have adult-onset symptomatic SCADD.?Confirmed?by high urinary ethylmalonic and methyl succinic acid, along with elevated acylcarnitines, as well as a rare pathogenic ACADS variant. A neurologist diagnosed me, and I saw?greatimprovement with riboflavin supplementation. I did not have a complete resolution of symptoms, and eventually, after increasing the dose too high, my symptoms all returned along with?new,?cardiovascular symptoms and?a very strange, sulfuric odor in urine resembling a pack of matches. I am a 30 year old female. Recently?my?doctor discussed the possibility of synergistic heterozygosity and suggested?maybe?hydrogen?sulfide could be backing up my short-chain fat oxidation. I tried coq10 at his suggestion in low doses and had nearly instant flushing and heart palpitations. He suggested a possible?“block”?in complex III causing this issue,?which?was?later confirmed?by a mitoswab test showing low complex III function. Is this a phenomenon you see sometimes? As far as?I'm?aware, coq10 metabolizes sulfur into sulfite, which?then?must go through glutathione and a molybdenum-dependent enzyme before being broken down into sulfate. I hypothesized that I?may?be experiencing this flushing because of inadequate molybdenum status (which is impossible to test as far as?I’m?aware)?causing?a reaction to a sudden increase in sulfite. My doctor says this makes?sense,?but can only guess and is not a FAOD expert. I wondered if this is an issue you have seen before. Read the full answer here: https://lnkd.in/eJfzRcSX #raredisease?#geneticdisorder?#INFORMNetwork?#healthconcerns?#CACTdeficiency?#FAOD?#research?#network

Carnitine Uptake Defect (Primary Carnitine Deficiency) The carnitine uptake defect (CUD), caused by a lack of the primary carnitine transporter (OCTN2), is a rare inherited fatty acid oxidation disorder (FAOD). When OCTN2 is lost, the body cannot use most fats to make energy to run the body. In the United States, the defect is rare and occurs in approximately 1 in 100,000 newborns.?In the Japanese?CUD?is much more common, affecting 1 in every 40,000 newborns.?CUD?is one of several genetic disorders where the body cannot produce energy from fats. As a group, these are called fatty acid oxidation disorders (FAODs).?At the International Network of?Fatty Acid Oxidation Research and Management (INFORM)?Center,?our goal is?to educate the public about FAODs and?to?create a support group community that helps families of those with CUD and other FAODs. To read the full article and learn?more?click the link: https://lnkd.in/efRVkxpw #raredisease?#geneticdisorder?#INFORMNetwork?#healthconcerns?#CACTdeficiency?#FAOD?#research?#network

Hypoketotic Hypoglycemia Explained in Simple Terms. Hypoketotic hypoglycemia is a medical condition characterized by low blood sugar levels, with a focus on fatty acid oxidation disorders. It occurs when the body?is unable to?efficiently break down fats as an energy source, leading to a buildup of toxic by-products and a reduction in energy production. Fatty acid oxidation disorders are a group of inherited metabolic disorders that affect?the way?the body processes fats.?Normally,?when glucose levels are low, the body will switch to burning fats as an energy source.?However, in individuals with fatty acid oxidation disorders, the body?is unable to?effectively break down and use fats, leading to a buildup of toxic by-products in the bloodstream. To read the full article and learn?more?click the link: https://lnkd.in/e4t3ABcm #raredisease #geneticdisorder #INFORMNetwork #healthconcerns #CACTdeficiency #FAOD #research #network

INFORM Q&A Question: My 18-year-old son was recently diagnosed with CPT2 deficiency after being hospitalized with rhabdomyolysis on Jan. 4, 2024. Genetic testing revealed that he is heterozygous for the deficient gene, and my wife, my daughter, and I are now undergoing genetic testing to learn more.?My son is a competitive basketball player and committed to playing in college just before his?episode of rhabdo.?My question is?whether there are other examples of high-level athletes with CPT2 deficiency. I’m also curious?about?how this supposedly recessive trait can be symptomatic in a heterozygous individual. Answer: There have been some reports of heterozygotes (carriers) of CPS2 who are symptomatic, but it is much more likely that the genetic testing just missed the mutation on the second copy of his gene.?This?is common, especially if?the test he had?was a gene panel. Your geneticists should be able to do additional testing to help sort out this possibility, including the pending testing on the rest of the family. It is also possible to do functional testing on a skin cell sample. Regarding exercise, I know of patients with CPT2 deficiency who have played college sports, but it is very individual?and?most have continued to have problems with rhabo. I know of one individual who insisted on continuing long-distance running (half marathons), most accepting a Rhabdo episode at the end of a race. Once a diagnosis is confirmed, he is likely to benefit from treatment?including?trihepatanoin (Dojolvi). Your genetics team can help implement this therapy. Learn more here: https://lnkd.in/ec3rRprp #raredisease?#geneticdisorder?#INFORMNetwork?#healthconcerns?#CACTdeficiency?#FAOD?#research?#network

Are you ready for our upcoming INFORM Lecture Series?taking place?on?Monday, May 20, 2024, 10:00 AM -11:00 AM EST? Our speaker will be?Christoff Odendaal, PhD.?Christoff Odendaal, originally from South Africa, did his PhD at the University of Groningen in the Netherlands under?the supervision of Prof Barbara Bakker and the co-supervision of Prof Terry Derks.?His focus lay on computational modeling of the mitochondrial fatty acid oxidation in MCADD patients, particularly on the effects of this deficiency on coenzyme A availability.?This?led to some interesting predictions?which?he, together?with Ligia Kiyuna, also from the Bakker lab, and Madhulika Singh from the Chemistry Department at the University of Leiden, experimentally tested using mouse and cell models.?Currently, he is doing a post-doc at the VU (Vrije Universiteit) in Amsterdam, looking at the metabolic fingerprint of head and neck cancer using genome-scale modeling. His Presentation: A new old player in MCADD: Reduced Coenzyme A availability in medium-chain acyl-CoA dehydrogenase deficiency. Learn more about our 2024 INFORM Lecture Series here: https://lnkd.in/ePdn8Mqh

Are you ready for our upcoming INFORM Lecture Series taking place on Monday, May 20, 2024, 10:00 AM -11:00 AM EST? Our speaker will be?Ligia A. Kiyuna,?PhD student. Ligia Kiyuna is a fifth-year PhD candidate at the University of Groningen in the Netherlands, supervised by Professor Barbara M. Bakker. During her master’s in Brazil, she studied the effects of oxidative stress on micro-RNA biosynthesis in heart failure. Since 2019, her research projects have focused on understanding the pathophysiology of medium-chain acyl-CoA deficiency (MCADD) from both biochemical and systemic perspectives. Her Presentation:? A new old player in MCADD: reduced coenzyme A availability in medium-chain acyl-CoA dehydrogenase deficiency. Learn more about our 2024 INFORM Lecture Series here: https://lnkd.in/ePdn8Mqh

Are you ready for our upcoming INFORM Lecture Series taking place on?Monday, May 20, 2024, 10:00 AM -11:00 AM EST? Our speaker will be?David Olsson,?MD. Dr. Olsson is currently working as a consultant at the Department of Pediatric Endocrinology and Metabolic Disorders at the Karolinska University Hospital. Dr. Olsson completed his pediatric training at Astrid Lindgren Children's Hospital in Stockholm before joining the fellow program at the Department of Pediatric Endocrinology and Metabolic Disorders where he currently serves as a consultant in Metabolic disorders with a special focus on fatty acid oxidation disorders. His Presentation: Fasting metabolism in children with fatty acid oxidation disorders: Earlier lipolysis in VLCADD compared to MCADD patient. Learn more about our 2024 INFORM Lecture Series here: https://lnkd.in/ePdn8Mqh