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.Metals in medicine: Metals in medicine are used in organic systems for diagnostic and treatment purposes. Inorganic elements are also essential for organic life as cofactors in enzymes called Metalloproteins.MetallothioneinCopper toxicityLysinuric protein intoleranceNeutral 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.HyperammonemiaIndex of energy articles: This is an index of energy articles.Lipotoxicity: Lipotoxicity is a metabolic syndrome that results from the accumulation of lipid intermediates in non-adipose tissue, leading to cellular dysfunction and death. The tissues normally affected include the kidneys, liver, heart and skeletal muscle.Hyperphenylalaninemia: (also includes non-classic PKU)Smith–Lemli–Opitz syndromeAutorefractor: 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.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.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.Silent 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.Fabry disease: (ILDS E75.25)Liver sinusoid: A liver sinusoid is a type of sinusoidal blood vessel (with fenestrated, discontinuous endothelium) that serves as a location for the oxygen-rich blood from the hepatic artery and the nutrient-rich blood from the portal vein.SIU SOM Histology GIGiralang, 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 acidHypophosphatasiaMethylmalonic acidPrescription 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.HydroxocobalaminIsovaleric acidemiaMethylmalonyl-CoASystemic primary carnitine deficiencyColes PhillipsSotolonArginine:glycine amidinotransferaseGlucose transporterErythropoietic porphyriaGlutaryl-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).Zinc toxicityArgininemia: 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.Flux (metabolism): Flux, or metabolic flux is the rate of turnover of molecules through a metabolic pathway. Flux is regulated by the enzymes involved in a pathway.Spin–lattice relaxation in the rotating frame: Spin–lattice relaxation in the rotating frame is the mechanism by which Mxy, the transverse component of the magnetization vector, exponentially decays towards its equilibrium value of zero, under the influence of a radio frequency (RF) field in nuclear magnetic resonance (NMR) and magnetic resonance imaging (MRI). It is characterized by the spin–lattice relaxation time constant in the rotating frame, T1ρ.NitisinoneRDCRN 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.CitrullinemiaMatrix model: == Mathematics and physics ==Symmetry 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.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".Cobalt(II) hydroxideAlkali metal oxide: The alkali metals react with oxygen to form several different compounds: suboxides, oxides, peroxides, superoxides, and ozonides. They all react violently with water.AdenylosuccinateMedium-chain acyl-coenzyme A dehydrogenase deficiencyTemporal analysis of products: Temporal Analysis of Products (TAP), (TAP-2), (TAP-3) is an experimental technique for studyingAtomic mass: right |thumb|200px|Stylized [[lithium-7 atom: 3 protons, 4 neutrons, & 3 electrons (total electrons are ~1/4300th of the mass of the nucleus). It has a mass of 7.Table of standard reduction potentials for half-reactions important in biochemistry: The values below are standard reduction potentials for half-reactions measured at 25°C, 1 atmosphere and a pH of 7 in aqueous solution.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.Neurodegeneration 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.Protein 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.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Heptadecanoic acidHereditary Disease Foundation: The Hereditary Disease Foundation (HDF) aims to cure genetic disorders by supporting basic biomedical research.Glucose-methanol-choline oxidoreductase family: In molecular biology, the glucose-methanol-choline oxidoreductase family (GMC oxidoreductase) is a family of enzymes with oxidoreductase activity.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary -, a part of The New York Times Company.Biotransformation: Biotransformation is the chemical modification (or modifications) made by an organism on a chemical compound. If this modification ends in mineral compounds like CO2, NH4+, or H2O, the biotransformation is called mineralisation.Gas chromatography–mass spectrometry: right|300 px|Example of a GC-MS instrument|thumbNickel electroplating: Nickel electroplating is a technique of electroplating a thin layer of nickel onto a metal object. The nickel layer can be decorative, provide corrosion resistance, wear resistance, or used to build up worn or undersized parts for salvage purposes.Dermal fibroblast: Dermal fibroblasts are cells within the dermis layer of skin which are responsible for generating connective tissue and allowing the skin to recover from injury. Using organelles (particularly the rough endoplasmic reticulum), dermal fibroblasts generate and maintain the connective tissue which unites separate cell layers.Tandem mass spectrometry: 300 px|right|thumb|A [[Quadrupole mass analyzer|quadrupole time-of-flight hybrid tandem mass spectrometer.]]Manganese deficiency (plant): Manganese (Mn) deficiency is a plant disorder that is often confused with, and occurs with, iron deficiency. Most common in poorly drained soils, also where organic matter levels are high.Iron stress repressed RNA: Iron stress repressed RNA (IsrR) is a cis-encoded antisense RNA which regulates the expression of the photosynthetic protein isiA. IsiA expression is activated by the Ferric uptake regulator protein (Fur) under iron stress conditions.Gunther diseaseAmmonia transporterAlkali: In chemistry, an alkali (; from Arabic: al-qaly القلي, القالي , “ashes of the saltwort”) is a basic, ionic salt of an alkali metal or alkaline earth metal chemical element. An alkali also can be defined as a base that dissolves in water.Ornithine