Probenecid and colchicine: Probenecid with colchicine is a combination medication used to treat gout. Brand names include ColBenemid, Col-Probenecid, and Proben-C.Journal of Inherited Metabolic Disease: The Journal of Inherited Metabolic Disease is a peer-reviewed medical journal covering inherited metabolic disorders. It was established in 1978 and is the official journal of the Society for the Study of Inborn Errors of Metabolism.Aminohippuric acidLysinuric protein intoleranceProximal convoluted tubule: The proximal tubule is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.Mediated transportInulinKidney: The kidneys are bean-shaped organs that serve several essential regulatory roles in vertebrates. They remove excess organic molecules from the blood, and it is by this action that their best-known function is performed: the removal of waste products of metabolism.Neutral lipid storage disease: Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.Freedberg, et al.Transcellular transport: Transcellular transport involves the transportation of solutes by a cell through a cell. One classic example is the movement of glucose from the intestinal lumen to extracellular fluid by epithelial cells.Fractional sodium excretion: The fractional excretion of sodium (FENa) is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary sodium concentration alone, as urinary sodium concentrations can vary with water reabsorption.Filtration fraction: In renal physiology, the filtration fraction is the ratio of the glomerular filtration rate (GFR) to the renal plasma flow (RPF).HyperammonemiaAxoplasmic transport: Axoplasmic transport, also called axonal transport, is a cellular process responsible for movement of mitochondria, lipids, synaptic vesicles, proteins, and other cell parts (i.e.Tripartite ATP-independent periplasmic transporter: Tripartite ATP-independent periplasmic transporters (TRAP transporters) are a large family of solute transporters found in bacteria and archaea, but not in eukaryotes, that appear to be specific for the uptake of organic acids. They are unique in that they utilize a substrate binding protein (SBP) in combination with a secondary transporter.Hyperphenylalaninemia: (also includes non-classic PKU)Smith–Lemli–Opitz syndromeSilent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Autorefractor: An autorefractor or automated refractor is a computer-controlled machine used during an eye examination to provide an objective measurement of a person's refractive error and prescription for glasses or contact lenses. This is achieved by measuring how light is changed as it enters a person's eye.Chronic mucocutaneous candidiasisBeano (dietary supplement): Beano is an enzyme-based dietary supplement that is used to reduce gas in the digestive tract, thereby improving digestion and reducing bloating, discomfort, and flatulence caused by gas. It contains the enzyme alpha-galactosidase.Low-sulfur diet: A low-sulfur diet is a diet with reduced sulfur content. Sulfur containing compounds may also be referred to as thiols or mercaptans.Fabry disease: (ILDS E75.25)Giralang, Australian Capital TerritoryOrnithine transcarbamylase: Ornithine transcarbamylase (OTC) (also called ornithine carbamoyltransferase) is an enzyme that catalyzes the reaction between carbamoyl phosphate (CP) and ornithine (Orn) to form citrulline (Cit) and phosphate (Pi). In plants and microbes, OTC is involved in arginine (Arg) biosynthesis, whereas in mammals it is located in the mitochondria and is part of the urea cycle.Argininosuccinic acidHypophosphatasiaColes PhillipsPrescription cascade: Prescription cascade refers to the process whereby the side effects of drugs are misdiagnosed as symptoms of another problem resulting in further prescriptions and further side effects and unanticipated drug interactions. This may lead to further misdiagnoses and further symptoms.HydroxocobalaminMethylmalonic acidIsovaleric acidemiaMethylmalonyl-CoASystemic primary carnitine deficiencyElectron transfer: Electron transfer (ET) occurs when an electron moves from an atom or a chemical species (e.g.Burst kinetics: Burst kinetics is a form of enzyme kinetics that refers to an initial high velocity of enzymatic turnover when adding enzyme to substrate. This initial period of high velocity product formation is referred to as the "Burst Phase".SotolonErythropoietic porphyriaMatrix model: == Mathematics and physics ==Glutaryl-CoA dehydrogenase: Glutaryl-CoA dehydrogenase (GCDH) is an enzyme encoded by the GCDH gene on chromosome 19. The protein belongs to the acyl-CoA dehydrogenase family (ACD).Arginine:glycine amidinotransferaseArgininemia: Argininemia, also called arginase deficiency, is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood.NitisinoneProtein primary structure: The primary structure of a peptide or protein is the linear sequence of its amino acid structural units, and partly comprises its overall biomolecular structure. By convention, the primary structure of a protein is reported starting from the amino-terminal (N) end to the carboxyl-terminal (C) end.RDCRN Contact Registry: The Rare Diseases Clinical Research Network (RDCRN) Contact Registry is an international patient contact registry sponsored by the National Institutes of Health. This registry collects basic data (i.CitrullinemiaProteinogenic amino acid: Proteinogenic amino acids are amino acids that are precursors to proteins, and are incorporated into proteins cotranslationally — that is, during translation. There are 23 proteinogenic amino acids in prokaryotes (including N-Formylmethionine, mainly used to initiate protein synthesis and often removed afterward), but only 21 are encoded by the nuclear genes of eukaryotes.Cell membraneSymmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.AdenylosuccinateNeurodegeneration with brain iron accumulation: Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities.Ornithine aminotransferase deficiency: Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood.Hereditary Disease Foundation: The Hereditary Disease Foundation (HDF) aims to cure genetic disorders by supporting basic biomedical research.SLC26A2: The SLC26A2 protein is a member of the solute carrier family. In humans, this transporter is encoded by the SLC26A2 gene.Medium-chain acyl-coenzyme A dehydrogenase deficiencyDMT1: The divalent metal transporter 1 (DMT1), also known as natural resistance-associated macrophage protein 2 (NRAMP 2), and divalent cation transporter 1 (DCT1), is a protein that in humans is encoded by the SLC11A2 (solute carrier family 11, member 2) gene. DMT1 represents a large family of orthologous metal ion transporter proteins that are highly conserved from bacteria to humans.