Last updated: June 6, 2025 Introduction to Organic Acidurias Organic aciduria (OAD) refers to a biochemically defined group of inherited metabolic diseases resulting from failure to metabolize various organic acids. The OAD can result from mutations in genes encoding...
Last updated: March 10, 2025 Introduction to Disorders of Fatty Acid Oxidation The majority of clinical problems related to fatty acid metabolism are associated with the processes of mitochondrial fatty acid β-oxidation but also include disorders in peroxisomal lipid...
Last Updated: March 6, 2025 Introduction to Lipid Storage Myopathies The lipid storage myopathies (LSM) represent a heterogeneous group of inherited disorders that, in addition to other pathologies, are all characterized by abnormal lipid accumulation in muscle fiber....
Last Updated: February 19, 2025 Introduction to Carnitine Deficiency, Systemic Primary (CDSP) Carnitine deficiencies lead to an inability to transport long-chain fatty acids (as fatty acylcarnitines) into the mitochondria for oxidation. Carnitine deficiencies can...
Last Updated: December 19, 2022 Introduction to CPT2 Deficiency Carnitine palmitoyltransferase 2 (CPT2 or CPT-II) is one of a family of carnitine acyltransferases in humans that catalyze the reversible transfer of acyl groups between coenzyme A (CoASH) and...
Last Updated: September 15, 2022 Introduction to CPT1 Deficiency In order for the utilization of long-chain fatty acids as an energy source they must be transported into the mitochondria where the majority of fatty acid β-oxidation takes place. The transport...
Last Updated: September 15, 2022 Introduction to SCAD Deficiency The acyl-CoA dehydrogenases are a family of enzymes involved in the first step of the mitochondrial β-oxidation of fatty acids. Short-chain acyl-CoA dehydrogenase (SCAD), which is also called...
Last Updated: September 15, 2022 Introduction to MCAD Deficiency The acyl-CoA dehydrogenases are a family of enzymes involved in the first step of the mitochondrial β-oxidation of fatty acids. Medium-chain acyl-CoA dehydrogenase (MCAD), which is also called...
Last Updated: December 19, 2022 Introduction to VLCAD Deficiency The very long-chain acyl-CoA dehydrogenase (VLCAD) enzyme is a member of the fatty acyl-CoA dehydrogenase family. The fatty acyl-CoA dehydrogenases are FAD-dependent enzymes involved in the first step of...
Last Updated: September 15, 2022 Introduction to Refsum Disease Refsum disease (heredopathia atactica polyneuritiformis) is an autosomal recessive disorder named for Sigvald Refsum who, in 1945, initially characterized the cardinal clinical features of this disease...