The coronavirus disease 2019 (COVID-19) pandemic negatively affected the mental health of people living with rare diseases, a new study published in Molecular Genetics and Metabolism Reports found. This was especially the case for people affected by inherited metabolic diseases such as long chain fatty acid oxidation disorder (LCFAOD), even though these patients showed a…
A 14-year-old male patient was diagnosed with cooccurring type 1 diabetes mellitus (DM1) and very long chain acyl-CoA dehydrogenase deficiency (VLCADD), a type of long chain fatty acid oxidation disorder (LCFAOD), as reported in a case study published in Clinical Biochemistry. The co-occurrence of both disorders requires careful balancing to avoid hyperglycemia and hypoglycemia. Hyperglycemia…
Dietary recommendations could influence the progression of necrotizing enterocolitis in patients with long chain fatty acid oxidation disorder (LCFAOD), according to a study recently published in Frontiers in Pediatrics. “It is important to consider skimmed human milk to minimize exposure to formula in the NEC risk period during feeding advancement, which may be longer in…
Triheptanoin dramatically decreased the frequency and severity of rhabdomyolysis in a 6-year-old female patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD), according to a case study published in Neuromuscular Disorders. However, the treatment did not change the progression of retinopathy. The patient was diagnosed with LCHADD, a type of long-chain fatty acid oxidation disorder (LCFAOD),…
Tryptophan metabolites and medium- and long-chain fatty acids are altered in patients with major depressive disorder and schizophrenia, a new study published in Medicina found. These findings provide more understanding of dysfunctional tryptophan and fatty acid metabolism. It is already known that the disruption of tryptophan and fatty acid metabolism, as is seen in long…
A high-fat diet and endurance exercise increase the content of fatty acid translocase/cluster of differentiation 36 (FAT/CD36) at both the mRNA and protein level, concluded a study that systematically reviewed primary studies. The translocation of FAT/CD36 to the cell membrane and mitochondria increases lipid metabolism, the review also said. However, the results are not conclusive…
Reneo Pharmaceuticals Inc, a clinical-stage pharmaceutical company, received Fast Track designation from the U.S. Food and Drug Administration (FDA) for Mavodelpar (REN001) in the treatment of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a genotype often reported in patients with long chain fatty acid oxidation disorder (LC-FAOD). “Receiving this Fast Track designation for a second indication continues…
Researchers from the Philippines reported the first case of carnitine-acylcarnitine translocase deficiency (CACTD), a type of long-chain fatty acid oxidation disorder (LCFAOD) in the Filipino population. “This case highlights the need to follow-up newborn screening results when faced with a critically ill neonate, and the benefit of proper referral to specialists even in the case…
Icariin can improve fatty acid oxidation and reduce the accumulation of lipids in the liver, according to a new study published in the journal Molecules. It does so by enhancing fatty acid oxidation molecules such as carnitine palmitoyltransferase 1 (CPT1), and long-chain acyl-CoA dehydrogenase (LCAD), among others. CPT1 is one of 6 enzymes, the deficiency…
The clinical and molecular characteristics of 4 patients with trifunctional protein (TFP) deficiency and 1 with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency, 2 types of long chain fatty acid oxidation disorder (LCFAOD) were described in the first of this year’s lecture series of the International Network for Fatty Acid Oxidation Research and Management (INFORM). The aim…
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