... and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to ... Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation ... Articles with short description, Short description matches Wikidata, Fatty acids, Lipid metabolism disorders). ... Crawford, T. O.; Sladky, J. T.; Hurko, O.; Besner-Johnston, A.; Kelley, R. I. (1999). "Abnormal fatty acid metabolism in ...

Inborn error of lipid metabolism Reference, Genetics Home. "3-hydroxyacyl-CoA dehydrogenase deficiency". Genetics Home ...

Familial types of disorders of fatty acid metabolism are generally classified as inborn errors of lipid metabolism. These ... and are any one of several inborn errors of metabolism that result from enzyme or transport protein defects affecting the ... Miller DN, Bazzano G; Bazzano (1965). "Propanediol metabolism and its relation to lactic acid metabolism". Ann NY Acad Sci. 119 ... D-lactate metabolism (to glucose) is slow or impaired in humans, so most of the D-lactate is excreted in the urine; thus D- ...

They are an inborn error of lipid metabolism, and when it affects the muscles also a metabolic myopathy. The enzyme or ... Fatty-acid metabolism disorders are sometimes classified with the lipid metabolism disorders, but in other contexts they are ... It is only useful for Specific fatty-acid metabolism disease. Mitochondrion Fatty acid metabolism Beta oxidation Metabolic ... "Fatty Acid and Glycerol Metabolism Disorders: Inherited Disorders of Metabolism: Merck Manual Professional". Retrieved 2009-03- ...

... lipid metabolism, adolescent gynecology, or inborn errors of metabolism.[citation needed] In the United States and Canada, ... Many pediatric endocrinologists have interests and expertise in bone metabolism, ...

... disorders (including inborn errors of lipid metabolism) are illnesses where trouble occurs in breaking down or ... Metabolic processes include lipid digestion, lipid absorption, lipid transportation, lipid storage, lipid catabolism, and lipid ... Other types of lipids found in the body are fatty acids and membrane lipids. Lipid metabolism is often considered as the ... Since lipids are hydrophobic molecules, they need to be solubilized before their metabolism can begin. Lipid metabolism often ...

... inborn errors of lipid metabolism (fatty acid metabolism disorder), inborn error of purine-pyrimidine metabolism (such as AMP ... Metabolic myopathies are further categorized by the system that they affect: inborn errors of carbohydrate metabolism ( ... Metabolic myopathies are inherited inborn errors of metabolism that affect the ability of the muscle to produce ATP, either ...

... lipid metabolism, inborn errors MeSH C18.452.648.556.475 - hypercholesterolemia, familial MeSH C18.452.648.556.480 - ... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty ... fructose metabolism, inborn errors MeSH C18.452.648.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C18.452.648.202. ...

... lipid metabolism, inborn errors MeSH C16.320.565.556.475 - hypercholesterolemia, familial MeSH C16.320.565.556.480 - ... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty ... fructose metabolism, inborn errors MeSH C16.320.565.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C16.320.565.202. ...

Iron metabolism disorders Lipid metabolism disorders Malabsorption syndromes Metabolic syndrome X Inborn error of metabolism ... These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur ... cite journal}}: Cite journal requires ,journal= (help) "Inborn errors of metabolism". MedlinePlus Medical Encyclopedia. ... Acid-base imbalance Metabolic brain diseases Disorders of calcium metabolism DNA repair-deficiency disorders Glucose metabolism ...

Of these, 18 have been associated with human disease as inborn errors of metabolism. Furthermore, studies indicate that lipid ... Accordingly, cancer cells can display irregular lipid metabolism with regard to both fatty acid synthesis and mitochondrial ... Fatty acid metabolism Fatty-acid metabolism disorder Lipolysis Krebs cycle Omega oxidation Alpha oxidation Houten SM, Wanders ... In biochemistry and metabolism, beta oxidation (also β-oxidation) is the catabolic process by which fatty acid molecules are ...

... is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is ... Inborn errors of metabolism, Glycoprotein metabolism disorders, Membrane transport protein disorders, Congenital disorders of ... Inborn error of metabolism Leukocyte adhesion deficiency PMM2 deficiency Jaeken J, Carchon H (1993). "The carbohydrate- ... All N-linked oligosaccharides originate from a common lipid-linked oligosaccharide (LLO) precursor, synthesized in the ER on a ...

... two inborn errors of cholesterol metabolism. He played a prime role in the identification of several apolipoproteins (proteins ... principally of the lipid and cholesterol metabolism, and director of National Institutes of Health and subsequently the Howard ... Fredrickson returned to the NIH, resuming work on lipid diseases and writing for the National Library of Medicine. He ... developed an interest in the metabolism of cholesterol and lipoproteins, as well as related medical conditions such as Niemann- ...

Full genome sequencing Inborn error of metabolism Predictive medicine "American Board of Medical Genetics and Genomics". abmgg. ... and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, ... In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential ... Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have ...

... is an inborn error of metabolism involving isoleucine catabolism and ketone body metabolism. The major clinical manifestations ... Mammalian nonspecific lipid-transfer protein (nsL-TP) (also known as sterol carrier protein 2) is a protein which seems to ... Mitchell GA, Fukao T (2001). "Inborn errors of ketone body metabolism". In Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The ... Hovik R, Brodal B, Bartlett K, Osmundsen H (June 1991). "Metabolism of acetyl-CoA by isolated peroxisomal fractions: formation ...

... and mutations in the gene lead to an inborn error of vitamin B5 (pantothenate) metabolism. Vitamin B5 is required for the ... Disruption of this enzyme affects energy and lipid metabolism and may lead to accumulation of potentially harmful compounds in ... and cofactor metabolism disorders, Syndromes affecting the nervous system). ...

"Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe ... The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of ... Lipid Res. 38 (5): 1053-8. doi:10.1016/S0022-2275(20)37229-1. PMID 9186922. Li-Hawkins J, Lund EG, Turley SD, Russell DW (June ... Lipid Res. 40 (12): 2195-203. doi:10.1016/S0022-2275(20)32094-0. PMID 10588945. v t e (Articles with short description, Short ...

... an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine Wolff also provided the ... He later conducted research into the role of lipid disturbance in childhood as a precursor of coronary artery disease and his ... He discovered Abetalipoproteinemia, a disorder of blood lipids, that interferes with the normal absorption of fat and fat- ... Later research into plasma lipids with Harold Salt pioneered the techniques of lipoprotein electrophoresis. ...

September 2010). "Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism ... In vitro studies demonstrate enzymatic hydrolysis of monoacylglycerol long lipid chains by ABHD12. ABHD12 can use both 1(3)-AG ... Journal of Lipid Research. 53 (11): 2413-24. doi:10.1194/jlr.M030411. PMC 3466009. PMID 22969151. Fiskerstrand T, H'mida-Ben ...

Lactose intolerance Fructose malabsorption Galactosemia Glycogen storage disease Inborn errors of carbohydrate metabolism ... and other lipids are commonly used for long-term energy storage. The hydrophobic character of lipids makes them a much more ... Biology portal Carbohydrate+metabolism at the U.S. National Library of Medicine Medical Subject Headings (MeSH) BBC - GCSE ... Carbohydrate metabolism is the whole of the biochemical processes responsible for the metabolic formation, breakdown, and ...

"Sources of propionate in inborn errors of propionate metabolism". Metabolism. 39 (11): 1133-1137. doi:10.1016/0026-0495(90) ... in the regulation of energy metabolism". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1864 (11 ... and possibly one of the most common inborn errors of metabolism. Due to being infrequently diagnosed, it most often goes ... Amino acid metabolism disorders, Rare diseases, Vitamin, coenzyme, and cofactor metabolism disorders). ...

... and other inborn errors of carbohydrate metabolism that affect muscle-defect in sugar (carbohydrate) metabolism. The deficiency ... carbohydrate metabolism, lipid metabolism [including ketosis], protein metabolism [including the purine nucleotide cycle], ... Inborn errors of carbohydrate metabolism Fatty acid metabolism disorder (fatty acid oxidation disorder, FAOD) Mitochondrial ... Metabolic myopathies are generally caused by an inherited genetic mutation, an inborn error of metabolism. (In livestock, an ...

Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography- ... it being largely free from interfering proteins or lipids. Although the human urine metabolome is a subset of the human serum ... It can detect as many as 110 inborn errors of metabolism ("IEMs", or metabolic disorders) from a urine specimen. Cordlife owns ... Inborn errors of metabolism, Epidemiology, Rare diseases). ... CS1 errors: missing periodical, All articles with bare URLs for ...

Measuring versus elapsed time the net rate of heat flow Inborn errors of metabolism - Class of genetic diseases Iron-sulfur ... May 2005). "A comprehensive classification system for lipids". Journal of Lipid Research. 46 (5): 839-61. doi:10.1194/jlr. ... Metabolism Look up metabolism in Wiktionary, the free dictionary. Wikimedia Commons has media related to Metabolism. General ... The metabolism of cancer cells is also different from the metabolism of normal cells, and these differences can be used to find ...

Inborn errors of carbohydrate metabolism). ... a diet rich in proteins and carbohydrates but not lipids. ... Molecular Genetics and Metabolism. 84 (4): 305-312. doi:10.1016/j.ymgme.2004.09.007. ISSN 1096-7192. PMID 15781190 - via ...

2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ... In Arabidopsis thaliana C5SD is located in both the endoplasmic reticulum and lipid particles. The common class of antifungal ... Silvestro Daniele; Andersen Tonni Grube; Schaller Hubert; Jensen Poul Erik (2013). "Plant sterol metabolism. Delta 7-Sterol-C5- ... "The spatial organization of lipid synthesis in the yeast Saccharomyces cerevisiae derived from large scale green fluorescent ...

... inborn errors of metabolism caused by a dysfunction of one of the enzymes. The rate of incidence is estimated to be 1 in 5,000 ... Samie MA, Xu H (June 2014). "Lysosomal exocytosis and lipid storage disorders". Journal of Lipid Research. 55 (6): 995-1009. ... This results in abnormal signaling pathways, calcium homeostasis, lipid biosynthesis and degradation and intracellular ... Metachromatic leukodystrophy is another lysosomal storage disease that also affects sphingolipid metabolism. Dysfunctional ...

Inborn Disorders of Sphingolipid Metabolism. Elsevier. pp. 129-147. doi:10.1016/b978-1-4831-9855-2.50013-7. ISBN 978-1-4831- ... CS1 errors: periodical ignored, CS1 maint: DOI inactive as of August 2023, CS1 German-language sources (de), Articles with ... NAA-derived acetates are involved in the synthesis of fatty acids, which are subsequently incorporated into myelin lipids. It ... January 2009). "Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat". Neurochemical Research. 34 (1): 138-48 ...

... within patients with hyperammonemia and inborn errors in urea synthesis. Phenylacetylglutamine levels in the urine serves as a ... The metabolism and conjugation of phenylacetate with glutamine in the liver involves amino acid acetylation carried out by the ... Journal of Lipid Research. 58 (5): 955-961. doi:10.1194/jlr.M075317. PMC 5408614. PMID 28283530. Mokhtarani M, Diaz GA, Rhead W ... High levels of phenylacetylglutamine in the urine following metabolism by the gut microbiota may also indicate early renal ...

Vianey-Liaud C, Divry P, Gregersen N, Mathieu M (1987). "The inborn errors of mitochondrial fatty acid oxidation". Journal of ... Oxidative phosphorylation Electron transport chain Microbial metabolism Metabolism Ghisla S, Thorpe C (Feb 2004). "Acyl-CoA ... Turnbull DM, Bartlett K, Eyre JA, Gardner-Medwin D, Johnson MA, Fisher J, Watmough NJ (Oct 1988). "Lipid storage myopathy due ... Galloway JH, Cartwright IJ, Bennett MJ (Mar 1987). "Abnormal myocardial lipid composition in an infant with type II glutaric ...