Inborn errors of metal metabolism). ...
Inborn errors of metal metabolism, Abnormalities of dermal fibrous and elastic tissue). ... Cutis laxa List of cutaneous conditions Inborn errors of metal metabolism Online Mendelian Inheritance in Man (OMIM): 304150 ... Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 359-387. ... Molecular Genetics and Metabolism Reports. 13: 14-17. doi:10.1016/j.ymgmr.2017.07.007. PMC 5522958. PMID 28761814. Quiroga E, ...
Inborn errors of metal metabolism, Abnormal clinical and laboratory findings for blood, Articles containing video clips, Iron ... Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 229-294. ... metabolism: diabetes in people with iron overload occurs as a result of selective iron deposition in islet beta cells in the ... Human iron metabolism Iron deficiency Hsu CC, Senussi NH, Fertrin KY, Kowdley KV (June 2022). "Iron overload disorders". ...
Inborn errors of metal metabolism, Hepatology, Autosomal recessive disorders, Iron metabolism). ... Human iron metabolism Iron overload disorder "Aceruloplasminemia , Genetic and Rare Diseases Information Center (GARD) - an ... molecular characterization of this disorder of iron metabolism". Proceedings of the National Academy of Sciences of the United ...
Inborn errors of metal metabolism, Rare diseases, X-linked recessive disorders, Syndromes, Syndromes affecting the nervous ... Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 359-387. ... Metal Ions in Life Sciences. Vol. 12. Springer. pp. 417-50. doi:10.1007/978-94-007-5561-1_12. ISBN 978-94-007-5560-4. PMID ...
Inborn errors of metal metabolism, Iron metabolism, Red blood cell disorders, Membrane transport protein disorders). ...
... inborn errors of metabolism, and several other contexts. Some medical specialties deal especially frequently with electrolyte ... Dabrowiak, James C. "Metals in Medicine." Inorganic Chemica Acta. (2012). Preface. (CS1 errors: generic name, CS1 errors: ... Metals can be toxic in high quantities. Either ingestion or faulty metabolic pathways can lead to metal toxicity (metal ... Toxic metal poisoning is usually treated with some type of chelating agent. Heavy metal poisoning, such as from mercury, ...
... metal metabolism, inborn errors MeSH C18.452.648.618.337 - hemochromatosis MeSH C18.452.648.618.403 - hepatolenticular ... 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. ...
... metal metabolism, inborn errors MeSH C16.320.565.618.337 - hemochromatosis MeSH C16.320.565.618.403 - hepatolenticular ... 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. ...
Inborn errors of metal metabolism, Iron metabolism, Autosomal recessive disorders, Congenital disorders, Rare diseases, Red ...
Inborn errors of metal metabolism, All stub articles, Medical sign stubs). ... v t e (CS1 errors: generic name, Articles with short description, Short description is different from Wikidata, Abnormal ...
Inborn errors of metal metabolism, Calcium). ... Disorders of calcium metabolism occur when the body has too ... Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma ... Calcium metabolism Milk-alkali syndrome Murphy, E; Williams (2009). "Hypocalcemia". Medicine. 37 (9): 465-468. doi:10.1016/j. ...
Balasubramaniam S, Duley JA, Christodoulou J (September 2014). "Inborn errors of pyrimidine metabolism: clinical update and ... Orotic acid is a Bronsted acid and its conjugate base, the orotate anion, is able to bind to metals. Lithium orotate, for ... Ashihara H, Stasolla C, Loukanina N, Thorpe TA (2000). "Purine and pyrimidine metabolism in cultured white spruce (Picea glauca ... Plater MJ, Foreman MR, Skakle JM, Howie RA (April 2002). "Hydrothermal crystallisation of metal (II) orotates (M= nickel, ...
... a rare autosomal recessive inborn error of metabolism characterized by disruption of ketogenesis and L-leucine catabolism. To- ... It catalyzes the reaction: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate and requires a divalent metal ion as ... caused by HMGCS2 mutations but also leads to organic acid accumulation and metabolic acidosis due to altered leucine metabolism ...
Turkel SB, Wong D, Randolph L (2020-09-01). "Psychiatric Symptoms Associated with Inborn Errors of Metabolism". SN ... metals, organic compounds, and a few animal toxins sleep disorders, such as in narcolepsy (in which REM sleep intrudes into ... termed postpartum psychosis inborn errors of metabolism, such as Wilson's disease, porphyria, and homocysteinemia. nutritional ... In most cases positive prediction errors are considered an abnormal occurrence. A positive prediction error response occurs ...
... inborn errors of metabolism, malformation syndromes and sometimes are unidentified. Non-genetic cardiomyopathies can have a ... Dilated cardiomyopathy may also result from alcohol, heavy metals, coronary artery disease, cocaine use, and viral infections. ...
... with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism ... The enzyme is 750 amino acids long, with the a metal ligand binding region to bind to the Cobalt region of adenosylcobalamin. ... For amino acid metabolism, methylmalonyl-CoA mutase works in the degradation pathways of isoleucine, threonine, valine, and ... This substrate is transformed to propionyl-CoA and undergoes the same metabolism previously described for propionyl-CoA. The ...
A new inborn error of metabolism". Journal of Inherited Metabolic Disease. 11 Suppl 2: 240-2. doi:10.1007/BF01804246. PMID ... to 10q25.3 and conservation of the putative proton shuttle and metal ligand binding sites with XPNPEP2". Archives of ...
It is also a metabolic myopathy and an inborn error of carbohydrate metabolism. PGM deficiency is an extremely rare condition ... A bivalent metal ion, usually magnesium or cadmium, is required for enzymatic activity and has been shown to complex directly ... Low ATP reservoir in muscles Glycogen storage disease Inborn errors of carbohydrate metabolism Metabolic myopathies Mutase ... Brown DH (1986). "Glycogen metabolism and glycolysis in muscle". Myology: Basic and Clinical. New York: McGraw-Hill. pp. 673-95 ...
... in various inborn errors of metabolism, and intentionally induced via a ketogenic diet, and in ketoacidosis (usually due to ... With a metal hydride gives a metal alkoxide salt, hydrolysis of which gives the alcohol, an example of ketone reduction With ... acetone could be formed by the dry distillation of metal acetates, so acetone was the syndesmide of two acetate ions. See: ...
MMA is an autosomal recessive inherited inborn error of metabolism, characterized by recurrent episodes of vomiting, lethargy, ... The homolytic reaction is unusual in biology, as is the presence of a metal-carbon bond. Methylmalonyl-CoA mutase is a member ... A deficiency of this enzyme is responsible for an inherited disorder of metabolism, methylmalonyl-CoA mutase deficiency, which ... Molecular Genetics and Metabolism. 84 (4): 317-25. doi:10.1016/j.ymgme.2004.11.011. PMID 15781192. Forny P, Froese DS, Suormala ...
An error in cobalamin metabolism resulting in decreased MeCbl and unaffected AdoCbl is characteristic of the CblE type of ... Pathogenicity associated with inborn genetic diseases. (MTRR):c.1573C>T - Arginine substitution with a premature termination ... Belongs to the oxidoreductase family, oxidizing metal ions with NADP+ acting as an electron acceptor. Uses FAD as a cofactor ... Low folate limits one carbon metabolism and homocysteine metabolism as vitamin B12 interacts with folate in this pathway. ...
... and megavitamin therapies for a group of rare inborn errors of metabolism. A review in the Annals of Internal Medicine ... heavy metal toxicity, acute hepatitis, herpes, hyperactivity, hypertension, hypoglycemia, influenza, learning disabilities, ... including individual biochemical variation and inborn errors of metabolism, debuted in scientific papers early in the 20th ... Plaza, S. M.; Lamson, D. W. (2005). "Vitamin K2 in bone metabolism and osteoporosis". Alternative Medicine Review. 10 (1): 24- ...
This discovery resulted in a paradigm shift in the study of amyloid self-assembly, inborn errors of metabolism disorders, and ... Reches, M, & Gazit, E. (2003) Casting Metal Nanowires Within Discrete Self-Assembled Peptide Nanotubes. Science 300, 625-627. ...
Garovic-Kocic V, Rosenblatt DS (August 1992). "Methionine auxotrophy in inborn errors of cobalamin metabolism". Clinical and ... Koutmos M, Pejchal R, Bomer TM, Matthews RG, Smith JL, Ludwig ML (March 2008). "Metal active site elasticity linked to ... "Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF ... Ravanel S, Gakière B, Job D, Douce R (June 1998). "The specific features of methionine biosynthesis and metabolism in plants". ...
... of the newborn Hirschsprung disease Hypoplastic left heart syndrome Hypoxic ischemic encephalopathy Inborn errors of metabolism ... In 1835, the Russian physician Georg von Ruehl developed a rudimentary incubator made from two nestled metal tubs enclosing a ...
Ezgu, F (2016). Inborn Errors of Metabolism. pp. 195-250. doi:10.1016/bs.acc.2015.12.001. ISBN 9780128046906. PMID 26975974. {{ ... Heavy metals, elements, nitrates, nitrites, and fluoride can be carried through water and cause congenital disorders. Nitrate, ... A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single-gene defects, ... Different countries support the screening for a number of metabolic disorders (inborn errors of metabolism (IEM)), and genetic ...
... an inborn error of metabolism). Many such inherited diseases may directly affect the child's metabolism and neural development ... caused by other heavy metals, such as lead, chromium, platinum etc., hydrocarbons like dioxin, PBDEs and PCBs, medications and ... Richardson AJ, Ross MA (July 2000). "Fatty acid metabolism in neurodevelopmental disorder: a new perspective on associations ... many of which interfere with folate metabolism, thus they are considered to have multifactorial causes.) Another deficiency, ...
Ristoff E, Larsson A (2007). "Inborn errors in the metabolism of glutathione". Orphanet Journal of Rare Diseases. 2: 16. doi: ... Interactions with certain metals also stabilize thiolate intermediates. In humans, glutathione synthetase functions in a ... This enzyme participates in glutamate metabolism and glutathione metabolism. At least one compound, Phosphinate is known to ... Njålsson R, Norgren S (2005). "Physiological and pathological aspects of GSH metabolism". Acta Paediatr. 94 (2): 132-7. doi: ...
2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ... Silvestro Daniele; Andersen Tonni Grube; Schaller Hubert; Jensen Poul Erik (2013). "Plant sterol metabolism. Delta 7-Sterol-C5- ... metal retardation, and liver disease. This patient was also found to have low levels of blood cholesterol and high levels of ...