Diseases and Disorders, Disorders of Peroxisome Biogenesis and Function
Last Updated: October 31, 2025 Introduction to Zellweger Syndrome Zellweger syndrome (ZWS) is a disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of the peroxisomes and are referred to as peroxisome...
Diseases and Disorders, Disorders of Fatty Acid Metabolism
Last Updated: Octobber 30, 2025 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...
Diseases and Disorders, Disorders of Fatty Acid Metabolism
Last Updated: October 30, 2025 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...
Diseases and Disorders, Diseases of Carbohydrate Metabolism
Last Updated: October 30, 2025 Introduction to GLUT1 Deficiency Syndrome, GLUT1DS GLUT1 deficiency syndrome type 1 (GLUT1DS; also identified as GLUT1DS1) is an autosomal dominant disorder where over 90% of cases represent the appearance of a new mutation, i.e. no...
