In nutrition, biology, and chemistry, fat usually means any ester of fatty acids, or a mixture of such compounds, most commonly those that occur in living beings or in food.
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions.
Erucic acid is a monounsaturated omega-9 fatty acid, denoted 22:1ω9. It has the chemical formula :CH3(CH2)7CH=CH(CH2)11CO2H. It is prevalent in wallflower seed and other plants in the family Brassicaceae, with a reported content of 20 to 54% in high erucic acid rapeseed oil and 42% in mustard oil. Erucic acid is also known as cis-13-docosenoic acid and the trans isomer is known as brassidic acid.
Lorenzo's Oil is a 1992 American drama film directed and co-written by George Miller. It is based on the true story of Augusto and Michaela Odone, parents who search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD), leading to the development of Lorenzo's oil. The film was shot in Pittsburgh, Pennsylvania, primarily from September 1991 to February 1992. It had a limited release in North America on December 30, 1992, with a nationwide release two weeks later, on January 15, 1993. Though it was a box office disappointment, grossing $7.2 million against its $30 million budget, the film was generally well received by the critics and garnered two nominations at the 65th Academy Awards.
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.
Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, respectively, depending on whether the damage is present before birth or occurs after. Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause.
Omega-9 fatty acids are a family of unsaturated fatty acids which have in common a final carbon–carbon double bond in the omega−9 position; that is, the ninth bond from the methyl end of the fatty acid.
Augusto Daniel Odone and Michaela Teresa Murphy Odone were the parents of Lorenzo Michael Murphy Odone, a boy with the illness adrenoleukodystrophy (ALD). They became famous for developing a controversial treatment using Lorenzo's oil for their son's incurable illness. This quest was recounted in the film Lorenzo's Oil (1992). Augusto had previously been an economist for the World Bank.
The Myelin Project was a 501(c)(3) nonprofit organization established in 1989 by Augusto Odone and his wife, Michaela and their friend Patti Chapman. Their son, Lorenzo, suffered from adrenoleukodystrophy (ALD), the most common of the leukodystrophies. The story of the Odones' struggle was dramatized in the 1992 Hollywood film Lorenzo's Oil, starring the well-known actors Nick Nolte, Susan Sarandon and Peter Ustinov. After 20 years, the Myelin Project was merged into another organization called ALD Connect in July 2019.
Triolein is a symmetrical triglyceride derived from glycerol and three units of the unsaturated fatty acid oleic acid. Most triglycerides are unsymmetrical, being derived from mixtures of fatty acids. Triolein represents 4–30% of olive oil.
ABCD1 is a protein that transfers fatty acids into peroxisomes.
Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes. IRD is associated with deficient phytanic acid catabolism, as is adult Refsum disease, but they are different disorders that should not be confused.
Nervonic acid is a fatty acid. It is a monounsaturated analog of lignoceric acid (24:0). It is also known as selacholeic acid and cis-15-tetracosenoic acid. Its name derives from the Latin word nervus, meaning nerve or sinew.
Hugo Wolfgang Moser (1924–2007) was a Swiss-born American research scientist and director of the Neurogenetics Research Center at the Kennedy Krieger Institute. Moser was also University Professor of Neurology and Pediatrics at Johns Hopkins University. His research on peroxisomal disorders achieved international recognition.
A very-long-chain fatty acid (VLCFA) is a fatty acid with 22 or more carbons. Their biosynthesis occurs in the endoplasmic reticulum. VLCFA's can represent up to a few percent of the total fatty acid content of a cell.
Odone is a surname and given name. Notable people with the name include:
The Kennedy Krieger Institute is a nonprofit, 501(c)(3) tax-exempt, Johns Hopkins affiliate located in Baltimore, Maryland, that provides in-patient and out-patient medical care, community services, and school-based programs for children and adolescents with learning disabilities, as well as disorders of the brain, spinal cord, and musculoskeletal system. The Institute provides services for children with developmental concerns mild to severe and is involved in research of various disorders, including new interventions and earlier diagnosis.
Acyl-CoA oxidase deficiency is a rare disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration). It is caused by pathogenic variants in ACOX1, which codes for the production of an enzyme called peroxisomal straight-chain acyl-CoA oxidase (ACOX1). This specific enzyme is responsible for the breakdown of very long chain fatty acids (VLCFAs).
Elivaldogene autotemcel, sold under the brand name Skysona, is a gene therapy used to treat cerebral adrenoleukodystrophy (CALD). It was developed by Bluebird bio and was given breakthrough therapy designation by the U.S. Food and Drug Administration in May 2018.
Rapeseed oil is one of the oldest known vegetable oils. There are both edible and industrial forms produced from rapeseed, the seed of several cultivars of the plant family Brassicaceae. Historically, it was restricted as a food oil due to its content of erucic acid, which in laboratory studies was shown to be damaging to the cardiac muscle of laboratory animals in high quantities and which imparts a bitter taste, and glucosinolates, which made it less nutritious in animal feed. Rapeseed oil from standard cultivars can contain up to 54% erucic acid.
