Metabolic disorders are a group of genetic or acquired conditions that disrupt normal metabolic pathways. Such disorders can affect various aspects of metabolism, including carbohydrate, lipid, amino acid, and energy metabolism. Diabetes mellitus is a common metabolic disorder characterized by chronic hyperglycaemia (high blood glucose levels) due to defects in insulin secretion, insulin action, or both. Type 1 diabetes is an autoimmune condition where the immune system attacks and destroys pancreatic beta cells, leading to insulin deficiency. Type 2 diabetes, the more prevalent form, results from insulin resistance in target tissues (muscle, liver, adipose tissue) and inadequate insulin secretion. Hyperlipidaemia refers to elevated levels of lipids (generally cholesterol and triglycerides) in the blood. It is a major risk factor for cardiovascular diseases, including atherosclerosis and coronary artery disease. Familial hypercholesterolemia (FH), an autosomal dominant condition, is a genetic disorder characterized by high levels of LDL cholesterol, increasing the risk of premature atherosclerosis. The gene mutations associated with FH primarily affect the low-density lipoprotein receptor (LDLR) gene, but mutations in other genes like ApoB and PCSK9 can also cause FH. Treatment involves lifestyle changes and in some cases statin medications may be prescribed to lower cholesterol levels. Phenylketonuria (PKU) is an inherited metabolic disorder caused by the deficiency of the enzyme phenylalanine hydroxylase, an enzyme essential for converting the amino acid phenylalanine into tyrosine. Without this enzyme, phenylalanine accumulates in the body, leading to intellectual disabilities and other neurological problems. Early screening allows for dietary interventions that restrict phenylalanine intake, preventing the development of intellectual disabilities. Galactosemia is a rare genetic disorder caused by the deficiency of enzymes needed to metabolize galactose. Galactose accumulates in the body, leading to liver damage, kidney problems, and intellectual disabilities. Classic galactosemia is the most common and severe form of the disorder and is caused by mutations in the GALT gene (Galactose-1-phosphate uridylyltransferase gene) located on chromosome 9. This gene encodes the enzyme galactose-1-phosphate uridylyltransferase, which is responsible for converting galactose-1-phosphate to glucose-1-phosphate in the liver. Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic disorders characterized by the accumulation of undegraded substrates within lysosomes, the cellular organelles responsible for breaking down waste materials. Examples of LSDs include Gaucher disease, Fabry disease, and Niemann-Pick disease. Each LSD results from the deficiency of a specific lysosomal enzyme, leading to a wide range of symptoms affecting different organs and systems. Mitochondrial disorders are an additional group of genetic disorders that affect the function of mitochondria. These disorders can manifest in various ways, affecting multiple organs and systems, such as the brain, muscles, and heart. Symptoms may include muscle weakness, exercise intolerance, and neurological problems. Finally, Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that affects red blood cells' ability to protect against oxidative stress. Certain triggers, such as infections or certain medications, can cause the destruction of red blood cells, leading to haemolytic anaemia. We provide a large product catalogue of research tools for investigating metabolic disorders, including TNF alpha antibodies, Albumin antibodies, PTEN antibodies, TNF alpha ELISA Kits, and Adiponectin ELISA Kits. Explore our full metabolic disorders product range below and discover more, for less.