Amino Acid Transport Disorders, Inborn
Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)
Amino Acid Transport Systems
Amino Acids
Aminoisobutyric Acids
Amino Acid Transport Systems, Basic
Biological Transport
Amino Acid Transport System A
Biological Transport, Active
Amino Acid Transport System L
Carnitine
Dairy Products
Organic Cation Transport Proteins
Fatty Acids
Carnitine O-Palmitoyltransferase
Expression of heteromeric amino acid transporters along the murine intestine. (1/5)
Members of the new heterodimeric amino acid transporter family are composed of two subunits, a catalytic multitransmembrane spanning protein (light chain) and a type II glycoprotein (heavy chain). These transporters function as exchangers and thereby extend the transmembrane amino acid transport selectivity to specific amino acids. The heavy chain rBAT associates with the light chain b degrees (,+)AT to form a cystine and cationic amino acid transporter. The other heavy chain, 4F2hc, can interact with seven different light chains to form various transporters corresponding to systems L, y(+)L, asc or x(-)(c). The importance of some of these transporters in intestinal and renal (re)absorption of amino acids is highlighted by the fact that mutations in either the rBAT or b degrees (,+)AT subunit result in cystinuria whereas a defect in the y(+)-LAT1 light chain causes lysinuric protein intolerance. Here we investigated the localization of these transporters in intestine since both diseases are also characterized by altered intestinal amino acid absorption. Real time PCR showed organ-specific expression patterns for all transporter subunit mRNAs along the intestine and Western blotting confirmed these findings on the protein level. Immunohistochemistry demonstrated basolateral coexpression of 4F2hc, LAT2 and y(+)-LAT1 in stomach and small intestine, whereas rBAT and b degrees (,+)AT were found colocalizing on the apical side of small intestine epithelium. In stomach, 4F2hc and LAT2 were localized in H(+)/K(+)-ATPase-expressing parietal cells. The abundant expression of several members of the heterodimeric transporter family along the murine small intestine suggests their involvement in amino acids absorption. Furthermore, strong expression of rBAT, b degrees (,+)AT and y(+)-LAT1 in the small intestine explains the reduced intestinal absorption of some amino acid in patients with cystinuria or lysinuric protein intolerance. (+info)Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. (2/5)
BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and secondary. Among the latter, lysinuric protein intolerance (LPI) is a rare genetic disorder caused by defective transport of cationic amino acids. Whole Lung Lavage (WLL) is currently the gold standard therapy for severe cases of PAP. CASE PRESENTATION: We describe the case of an Italian boy affected by LPI who, by the age of 10, developed digital clubbing and, by the age of 16, a mild restrictive functional impairment associated with a high-resolution computed tomography (HRCT) pattern consistent with pulmonary alveolar proteinosis. After careful assessment, he underwent WLL. CONCLUSION: Two years after WLL, the patient has no clinical, radiological or functional evidence of pulmonary disease recurrence, thus suggesting that WLL may be helpful in the treatment of PAP secondary to LPI. (+info)Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (3/5)
(+info)Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. (4/5)
(+info)Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. (5/5)
(+info) A group of rare genetic disorders that affect the transport of amino acids across cell membranes. These disorders can cause a range of symptoms including developmental delays, intellectual disability, seizures, and movement disorders. The disorders are caused by mutations in genes that code for proteins involved in amino acid transport.
Also known as: aminoacyl-tRNA synthetase deficiency, aminoacyl-tRNA synthetase/tRNA synthetase deficiency, and amino acid transporter defects.
Inborn errors of renal tubular transport
v t e (Articles with short description, Short description is different from Wikidata, Amino acid metabolism disorders, All stub ... Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as ... salts or amino acids, to be transported across the brush border of the renal tubule. This results in disruptions of renal ... Examples of these disorders include Iminoglycinuria, renal tubular acidosis and Gitelman syndrome. ...
List of MeSH codes (C18)
... amino acid transport disorders, inborn MeSH C18.452.648.088.400 - hartnup disease MeSH C18.452.648.088.600 - oculocerebrorenal ... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH ... renal tubular transport, inborn errors MeSH C18.452.648.851.093 - acidosis, renal tubular MeSH C18.452.648.851.191 - ... inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty MeSH C18.452.648.798.594 - Lesch- ...
List of MeSH codes (C16)
... amino acid transport disorders, inborn MeSH C16.320.565.088.400 - Hartnup disease MeSH C16.320.565.088.600 - oculocerebrorenal ... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH ... renal tubular transport, inborn errors MeSH C16.320.565.851.093 - acidosis, renal tubular MeSH C16.320.565.851.191 - ... inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty MeSH C16.320.565.798.594 - Lesch- ...
Aminoaciduria
... resulting in high concentrations of amino acids in the urine. This may be caused by congenital disorders of amino acid ... causing high concentrations of amino acids in the urine. This may be caused by a defect in the transport proteins in the renal ... Crook, Martin Andrew (2012). "Chapter 27: Inborn errors of metabolism". Clinical biochemistry and metabolic medicine (8th ed ... of the filtered amino acids back into the blood. In overflow aminoaciduria, abnormally high concentrations of amino acids in ...
Malcolm Davenport Milne
1958 - FRCP 1963 - Bradshaw Lecturer on Disorders of amino-acid transport 1976 - Lumleian Lecturer on Transport defects in ... Milne, M. D. (1966). "Lessons from Inborn Errors of Metabolism". Proceedings of the Royal Society of Medicine. 59 (11 Pt 1): ... Milne, M. D. (8 February 1964). "Disorders of Amino-Acid Transport". Br Med J. 1 (5379): 327-336. doi:10.1136/bmj.1.5379.327. ... He was an internationally recognized authority on disorders of amino-acid transport. In 1941 in Stockport, Cheshire he married ...
Cerebral creatine deficiency
Genetic diseases and disorders, Amino acid metabolism disorders). ... After production in the liver and kidneys, creatine is transported to organs and tissues with high energy demands, most ... Pediatric Endocrinology and Inborn Errors of Metabolism (1st ed.). New York: McGraw-Hill Medical. pp. 153-161. ISBN 978-0-07- ... Amino Acids. 40 (5): 1315-1324. doi:10.1007/s00726-011-0852-z. PMID 21390529. S2CID 13755292. Schulze, Andreas (2009). " ...
Methylmalonyl-CoA mutase
In its latent form, it is 750 amino acids in length. Upon entry to the mitochondria, the 32 amino acid mitochondrial leader ... a neurotoxic dicarboxylic acid that, due to the poor dicarboxylic acid transport capacities of the blood-brain barrier, is ... A deficiency of this enzyme is responsible for an inherited disorder of metabolism, methylmalonyl-CoA mutase deficiency, which ... MMA is an autosomal recessive inherited inborn error of metabolism, characterized by recurrent episodes of vomiting, lethargy, ...
Sodium phenylbutyrate
... amino acid supplements and a protein-restricted diet, children born with urea cycle disorders can usually survive beyond 12 ... "Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis". Science. 207 (4431): 659-61. ... This lack of CFTR in the cell membrane leads to disrupted chloride transport and the symptoms of cystic fibrosis. Sodium ... Sodium phenylbutyrate is a sodium salt of an aromatic fatty acid, made up of an aromatic ring and butyric acid. The chemical ...
Ornithine translocase deficiency
Amino acid metabolism disorders, Autosomal recessive disorders, Rare diseases). ... This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in the ... Ornithine transcarbamylase deficiency Inborn errors of metabolism Ornithine aminotransferase deficiency (gyrate atrophy of the ... Plasma amino acid analysis will show elevated ornithine levels, and urine amino acids will detect homocitrulline. Orotic acid ...
List of ICD-9 codes 240-279: endocrine, nutritional and metabolic diseases, and immunity disorders
... not elsewhere classified 270 Disorders of amino-acid transport and metabolism 270.0 Disturbances of amino-acid transport ... 277.8 Other specified disorders of metabolism 277.81 Primary carnitine deficiency 277.82 Carnitine deficiency due to inborn ... 270.8 Other specified disorders of amino-acid metabolism Trimethylaminuria 271 Disorders of carbohydrate transport and ... aciduria 270.6 Disorders of urea cycle metabolism Citrullinemia Hyperammonemia 270.7 Disorders of straight-chain amino-acid ...
Iminoglycinuria
... is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine ... An inborn error of renal tubular transport". New England Journal of Medicine. 278 (26): 1407-13. doi:10.1056/ ... instead of the amino group found in amino acids. Proline is considered and usually referred to as an amino acid, but unlike ... The neutral amino acid transporter SLC6A19 (affecting glycine, proline, and other neutral amino acids like cysteine and ...
Electron-transferring-flavoprotein dehydrogenase
ETQ-QO links the oxidation of fatty acids and some amino acids to oxidative phosphorylation in the mitochondria. Specifically, ... Vianey-Liaud C, Divry P, Gregersen N, Mathieu M (1987). "The inborn errors of mitochondrial fatty acid oxidation". Journal of ... "A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency". American Journal of Human Genetics. 81 (1 ... It is part of the electron transport chain. The enzyme is found in both prokaryotes and eukaryotes and contains a flavin and FE ...
MTRR (gene)
Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by ... Associated with disorders of cobalamin metabolism. Single nucleotide polymorphisms (SNPs) in the MTRR gene impair MTR activity ... Pathogenicity associated with inborn genetic diseases. (MTRR):c.1573C>T - Arginine substitution with a premature termination ... The domain is associated with electron transfer proteins and used in electron transport systems. The cofactor flavin- ...
Fanconi syndrome
Amino acid metabolism disorders, Kidney diseases, Syndromes). ... Fanconi syndrome affects the transport of many different ... "Nephrolithiasis related to inborn metabolic diseases". Pediatric Nephrology. 25 (3): 415-24. doi:10.1007/s00467-008-1085-6. PMC ... amino acids, uric acid, phosphate, and bicarbonate). Fanconi syndrome affects the proximal tubules, namely, the proximal ... This interferes with respiratory complex I and with beta oxidation of fatty acids. The result is a decrease in the ability of ...
Phenylketonuria
... neutral amino acid (LNAA). LNAAs compete for transport across the blood-brain barrier (BBB) via the large neutral amino acid ... Autosomal recessive disorders, Amino acid metabolism disorders, Skin conditions resulting from errors in metabolism, Disorders ... Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. ... The fact that CGMP is a peptide ensures that the absorption rate of its amino acids is prolonged compared to free amino acids ...
Otto Herbert Wolff
... an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine Wolff also provided the ... He discovered Abetalipoproteinemia, a disorder of blood lipids, that interferes with the normal absorption of fat and fat- ... evidence for defective carrier-mediated small intestinal transport of magnesium". GUT. BMJ Publishing Group. 20 (11): 1028-1033 ... first description of the genetic disorder, i.e. the chromosomal abnormality that leads to Edwards syndrome. In 1960, Wolff ...
Heme
... from the amino acid glycine and succinyl-CoA from the citric acid cycle (Krebs cycle). The rate-limiting enzyme responsible for ... Defects in various enzymes in synthesis of heme can lead to group of disorder called porphyrias, these include acute ... Some urobilinogen is absorbed by intestinal cells and transported into the kidneys and excreted with urine (urobilin, which is ... infusion of heme arginate or hematin and glucose can abort attacks of acute intermittent porphyria in patients with an inborn ...
Systemic primary carnitine deficiency
Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid ... Systemic primary carnitine deficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter ... Autosomal recessive disorders, Hepatology, Fatty-acid metabolism disorders). ... Carnitine is needed to transport long chain fatty acids into the mitochondria, where they can be broken down to produce acetyl- ...
Smith-Lemli-Opitz syndrome
The amino acid sequence that encodes DHCR7 is predicted to contain 475 amino acids, as well as several protein motifs. It ... Ghaziuddin, Mohammad; Al-Owain, Mohammed (2013). "Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update". ... All of these changes in the membrane likely contribute to changes in transport functions that are observed in SLOS. They may ... Much depends on the nature of the mutation (i.e. which amino acid is replaced and where). Null mutations are much less common, ...
Joseph D. Schulman
... required for normal transcellular amino acid transport. Schulman and David Cogan of the National Eye Institute were also the ... During this period, the major research contributions of Schulman and his associates were in the field of the inborn errors of ... "Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders". Clinical Genetics. 49 ... Pellefigue, F; Butler, JD; Spielberg, SP; Hollenberg, MD; Goodman, SI; Schulman, JD (1976). "Normal amino acid uptake by ...
Biotin deficiency
... biotin is essential for amino acid catabolism, gluconeogenesis, and fatty acid metabolism. Biotin is also necessary for gene ... Wolf B (2001). "Disorders of biotin metabolism". In Scriver CR, Beaudet AL, et al. (eds.). The metabolic & molecular bases of ... Some anticonvulsants (antiepileptic drugs) inhibit biotin transport across the intestinal mucosa. Evidence suggests that these ... and holocarboxylase synthetase deficiency can also lead to inborn or late-onset forms of biotin deficiency.[citation needed] In ...
GLUT1
GLUT 1 of humans and mice have 98% identity at the amino acid level. GLUT 1 is encoded by the SLC2 gene and is one of a family ... GLUT1 facilitates the transport of glucose across the plasma membranes of mammalian cells. This gene encodes a major glucose ... S2CID 18128118.*Lay summary in: "How Humans Make Up For An 'Inborn' Vitamin C Deficiency". ScienceDaily. March 21, 2008. Uldry ... Another mutation, ARG212CYS, has been shown to cause Dystonia 9 (DYT9), an autosomal dominant neurologic disorder characterized ...
Tricarboxylate transport protein, mitochondrial
Hoffmann GF, Köckler S (2016). "Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism". In Saudubray JM, ... transport protein has a tripartite structure consisting of three repeated domains that are approximately 100 amino acids in ... Mutations in this gene have been associated with the inborn error of metabolism combined D-2- and L-2-hydroxyglutaric aciduria ... For these reasons, the tricarboxylate transport protein is considered to play a key role in fatty acid synthesis. The structure ...
Methylmalonic acidemia
Autosomal recessive disorders, Amino acid metabolism disorders, Rare diseases, Vitamin, coenzyme, and cofactor metabolism ... An inborn error of metabolism leading to chronic metabolic acidosis". Arch Dis Child. 42 (225): 492-504. doi:10.1136/adc.42.225 ... Mutations leading to defects in vitamin B12 metabolism or in its transport frequently result in the development of ... is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic ...
Aceruloplasminemia
Inborn errors of metal metabolism, Hepatology, Autosomal recessive disorders, Iron metabolism). ... of ceruloplasmin protein that is unstable or nonfunctional by altering the open reading frame such that the amino acid ligands ... When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation ... Diagnosis of this disorder depends on blood tests demonstrating the absence of serum ceruloplasmin, combined with low serum ...
Cystinuria
Amino acid metabolism disorders, Autosomal recessive disorders, Membrane transport protein disorders). ... It is one of several inborn errors of metabolism included in the Garrod's tetrad. The disease is attributed to deficiency in ... amino acids: cystine, lysine, ornithine, arginine. Under normal circumstances, this protein allows certain amino acids, ... It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and ...
Aldolase B
Rottmann WH, Tolan DR, Penhoet EE (1984). "Complete amino acid sequence for human aldolase B derived from cDNA and genomic ... Inborn Metabolic Diseases (Fourth Revised ed.). Springer Berlin Heidelberg. 2006. Gomez PF, Ito K, Huang Y, Otsu K, Kuzumaki T ... HFI is recessively inherited autosomal disorder. Approximately 30 mutations that cause HFI have been identified, and these ... lysosomal degradation of aldolase B requires glutamine 111 in a signal sequence for chaperone-mediated transport". J. Cell. ...
Urea cycle
... and cause urea cycle disorders. If individuals with a defect in any of the six enzymes used in the cycle ingest amino acids ... The ornithine is then transported back to the mitochondria to begin the urea cycle again. In the first reaction, NH+ 4 + HCO− 3 ... Biomarkers in Inborn Errors of Metabolism, San Diego: Elsevier, pp. 103-123, doi:10.1016/b978-0-12-802896-4.00004-3, ISBN 978-0 ... amino acid disorders (Articles with short description, Short description is different from Wikidata, Urea cycle, Nitrogen cycle ...
Metabolism
The amino acids or sugars released by these extracellular enzymes are then pumped into cells by active transport proteins. ... The second law of thermodynamics states that in any isolated system, the amount of entropy (disorder) cannot decrease. Although ... Measuring versus elapsed time the net rate of heat flow Inborn errors of metabolism - Class of genetic diseases Iron-sulfur ... lack all amino acid synthesis and take their amino acids directly from their hosts. All amino acids are synthesized from ...
Sodium nitroprusside
This test can indicate inborn errors of amino acid transporters such as cystinuria, which results from pathology in the ... A role for NO in various common psychiatric disorders including schizophrenia, bipolar disorder and major depressive disorder ... transport of dibasic amino acids. Sodium nitroprusside is also used to detect amines, including those in illicit drugs. This ... The test will turn a red/purple colour if the test is positive, indicating significant amounts of amino acids were in the urine ...
Homeostasis
Renin is an enzyme which cleaves a decapeptide (a short protein chain, 10 amino acids long) from a plasma α-2-globulin called ... Copper is absorbed, transported, distributed, stored, and excreted in the body according to complex homeostatic processes which ... Almost any homeostatic component can malfunction either as a result of an inherited defect, an inborn error of metabolism, or ... Williams GH, Dluhy RG (2008). "Chapter 336: Disorders of the Adrenal Cortex". In Loscalzo J, Fauci AS, Braunwald E, Kasper DL, ...
Glycogen storage disease type I
The products of these processes are amino acids (mainly alanine), free fatty acids, and lactic acid. Free fatty acids from ... Autosomal recessive disorders, Hepatology, Inborn errors of carbohydrate metabolism). ... When lactate levels are elevated, blood-borne lactic acid competes for the same kidney tubular transport mechanism as urate, ... Amino acids and lactic acid are used to synthesize new G6P in liver cells by the process of gluconeogenesis. The last step of ...
Newborn screening
NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and ... Samples are transported daily to the laboratory responsible for testing. In the United States and Canada, newborn screening is ... Levy covers the history of newborn screening, starting with the origin of the concept of errors of inborn metabolism in the ... Newborn screening originated with an amino acid disorder, phenylketonuria (PKU), which can be easily treated by dietary ...
Infant formula
... on plasma amino acids, hematology, and trace element status". The American Journal of Clinical Nutrition. 68 (2): 350-356. doi: ... Baby is unable to breastfeed: The child has a birth defect or inborn error of metabolism such as galactosemia that makes ... The batch is temporarily stored and then transported by pipelines to pasteurization equipment when mixing is complete. This is ... it may be a trigger for posttraumatic stress disorder. Many families bottle feed to increase the father's role in parenting his ...
Succinic semialdehyde dehydrogenase deficiency
Amino acid metabolism disorders, Autosomal recessive disorders, Rare diseases, Gamma-Hydroxybutyric acid). ... Inborn errors of metabolism Chambliss, K. L.; Hinson, D. D.; Trettel, F.; Malaspina, P.; Novelletto, A.; Jakobs, C.; Gibson, K ... for these seizures but alterations in these neurotransmitters and their receptor binding or neurotransmitter transport is ... Detection of the disorder is possible with an organic acid analysis of the urine. Patients with SSADH deficiency will excrete ...
JAK-STAT signaling pathway
... arginine and glutamine amino acids, and a loop made of tryptophan, proline and aspartate amino acids (WPD loop). When SHP-1 is ... The proteins, such as JAKs and the receptors, are then transported to a compartment in the cell called the proteasome, which ... Mutations of the STAT5 protein, which can signal with JAK3, has been shown to result in autoimmune disorders. It has been ... Casanova, Jean-Laurent; Holland, Steven M.; Notarangelo, Luigi D. (2012). "Inborn Errors of Human JAKs and STATs". Immunity. 36 ...
Hereditary haemochromatosis
... resulting in a missense mutation that replaces the cysteine residue at position 282 with a tyrosine amino acid. Heterozygotes ... to accurate conclusions that describe haemochromatosis disease as an inborn error of metabolism where this inherited disorder ... "Iron Transport and Cellular Uptake: Transferrin/Iron Physiology". sickle.bwh.harvard.edu. Archived from the original on 2007-03 ... Genetic diseases and disorders, Red blood cell disorders, Hepatology, Arthritis, Disturbances of human pigmentation). ...
Fatty acid metabolism
Familial types of disorders of fatty acid metabolism are generally classified as inborn errors of lipid metabolism. These ... through specific transport proteins, such as the SLC27 family fatty acid transport protein. Red blood cells do not contain ... released into the blood by the liver for general use by the body tissues has to be synthesized from the glucogenic amino acids ... disorders may be described as fatty acid oxidation disorders or as a lipid storage disorders, and are any one of several inborn ...
Lysosomal storage disease
Inborn errors of metabolism, Neurological disorders in children, Autosomal recessive disorders, X-linked recessive disorders). ... Cystinosis is an lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. Alternatively ... Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ... Like other genetic disorders, individuals inherit lysosomal storage diseases from their parents. Although each disorder results ...
Thiamine deficiency
The citric acid cycle is a central metabolic pathway involved in the regulation of carbohydrate, lipid, and amino acid ... Inborn errors of pyruvate metabolism. In: Stanbury JB, Wyngaarden JB, Frederckson DS et al., eds. Metabolic Basis of Inherited ... Other disorders in which a putative role for thiamine has been implicated include subacute necrotising encephalomyelopathy, ... Decreased uptake of thiamine from the GI tract: Active transport of thiamine into enterocytes is disturbed during acute alcohol ...
Glycogen storage disease type V
... a lipid-based metabolic disorder which prevents fatty acids from being transported into mitochondria for use as an energy ... The myophosphorylase structure consists of 842 amino acids. Its molecular weight of the unprocessed precursor is 97 kDa. The ... Autosomal recessive disorders, Inborn errors of carbohydrate metabolism). ... The interactions of several amino acids in myophosphorylase's structure are known. Ser-14 is modified by phosphorylase kinase ...
DeCS - Termos Novos
AMINO ACID TRANSPORT DISORDERS, INBORN TRASTORNOS INNATOS DEL TRANSPORTE DE AMINOACIDOS TRANSTORNOS CORÉICOS CHOREATIC ... HEADACHE DISORDERS TRASTORNOS DE CEFALALGIA TRANSTORNOS DA TRANSIÇÃO SONO-VIGÍLIA SLEEP-WAKE TRANSITION DISORDERS TRASTORNOS DE ... ALCOHOL-INDUCED DISORDERS TRASTORNOS INDUCIDOS POR ALCOHOL TRANSTORNOS INTRÍNSECOS DO SONO SLEEP DISORDERS, INTRINSIC ... MUSCULAR DISORDERS, ATROPHIC TRASTORNOS MUSCULARES ATROFICOS TRANSTORNOS NEUROLÓGICOS DA MARCHA GAIT DISORDERS, NEUROLOGIC ...
MeSH Browser
Inborn Transport Disorders, Amino Acid Inherited Amino Acid Transport Disorders Transport Disorders, Amino Acid, Inborn ... Amino Acid Metabolism, Inborn Errors [C16.320.565.100] * Amino Acid Transport Disorders, Inborn [C16.320.565.151] * Hartnup ... Amino Acid Metabolism, Inborn Errors [C18.452.648.100] * Amino Acid Transport Disorders, Inborn [C18.452.648.151] * Hartnup ... Amino Acid Transport Disorders, Inborn Preferred Concept UI. M0328095. Scope Note. Disorders characterized by defective ...
MeSH Browser
Inborn Transport Disorders, Amino Acid Inherited Amino Acid Transport Disorders Transport Disorders, Amino Acid, Inborn ... Amino Acid Metabolism, Inborn Errors [C16.320.565.100] * Amino Acid Transport Disorders, Inborn [C16.320.565.151] * Hartnup ... Amino Acid Metabolism, Inborn Errors [C18.452.648.100] * Amino Acid Transport Disorders, Inborn [C18.452.648.151] * Hartnup ... Amino Acid Transport Disorders, Inborn Preferred Concept UI. M0328095. Scope Note. Disorders characterized by defective ...
NIH VideoCast - Vitamin B12 Metabolism Gone Awry: Pathways, Diseases and Therapy
Amino Acid Metabolism, Inborn Errors. Cobamides--deficiency. Vitamin B 12--metabolism. Publication Types: Lecture. Webcast ... One group of disorders caused by deficient activity of MUT are the hereditary methylmalonic acidemias (MMA), grave and ... After absorption, transport and intracellular metabolism, dietary vitamin B12 is converted into methyl - and 5-deoxyadenosyl- ... heterogenous inborn errors of organic acid metabolism. In this talk, I will give an overview of vitamin B12 metabolic disorders ...
DeCS
Inborn Transport Disorders, Amino Acid Inherited Amino Acid Transport Disorders Transport Disorders, Amino Acid, Inborn ... Inborn Transport Disorders, Amino Acid. Inherited Amino Acid Transport Disorders. Transport Disorders, Amino Acid, Inborn. ... Amino Acid Transport Disorders, Inborn - Preferred Concept UI. M0328095. Scope note. Disorders characterized by defective ... Amino Acid Transport Disorders, Inborn Entry term(s). ... Amino Acid Transport Disorders, Inborn [C16.320.565.151] Amino ...
DeCS - Termos Novos
AMINO ACID TRANSPORT DISORDERS, INBORN TRASTORNOS INNATOS DEL TRANSPORTE DE AMINOACIDOS TRANSTORNOS CORÉICOS CHOREATIC ... HEADACHE DISORDERS TRASTORNOS DE CEFALALGIA TRANSTORNOS DA TRANSIÇÃO SONO-VIGÍLIA SLEEP-WAKE TRANSITION DISORDERS TRASTORNOS DE ... ALCOHOL-INDUCED DISORDERS TRASTORNOS INDUCIDOS POR ALCOHOL TRANSTORNOS INTRÍNSECOS DO SONO SLEEP DISORDERS, INTRINSIC ... MUSCULAR DISORDERS, ATROPHIC TRASTORNOS MUSCULARES ATROFICOS TRANSTORNOS NEUROLÓGICOS DA MARCHA GAIT DISORDERS, NEUROLOGIC ...
DeCS - Termos Novos
AMINO ACID TRANSPORT DISORDERS, INBORN TRASTORNOS INNATOS DEL TRANSPORTE DE AMINOACIDOS TRANSTORNOS CORÉICOS CHOREATIC ... HEADACHE DISORDERS TRASTORNOS DE CEFALALGIA TRANSTORNOS DA TRANSIÇÃO SONO-VIGÍLIA SLEEP-WAKE TRANSITION DISORDERS TRASTORNOS DE ... ALCOHOL-INDUCED DISORDERS TRASTORNOS INDUCIDOS POR ALCOHOL TRANSTORNOS INTRÍNSECOS DO SONO SLEEP DISORDERS, INTRINSIC ... MUSCULAR DISORDERS, ATROPHIC TRASTORNOS MUSCULARES ATROFICOS TRANSTORNOS NEUROLÓGICOS DA MARCHA GAIT DISORDERS, NEUROLOGIC ...
NIH Guide: NEUROGENETIC DISORDERS OF INFANCY AND CHILDHOOD
6. Disorders of amino acid metabolism and transport such as phenylketonuria, homocystinuria, maple syrup urine disease, urea ... In addition to diseases that have their major effects on the nervous system, many inborn errors of metabolism affect several ... Examples of disorders of interest to the NINDS include: 1. Hereditary ataxias and related disorders such as Friedreich ataxia, ... 8. Disorders of metal metabolism such as Wilson disease and Menkes syndrome. There are numerous other neurological disorders ...
Pesquisa | Biblioteca Virtual em Saúde - BRASIL
Lysinuric protein intolerance (LPI) is an inborn error of cationic amino acid (arginine, lysine, ornithine) transport caused by ... autoimmune disorders and osteoporosis, are limited. Given the early lethality of the only published global Slc7a7 knockout ... these Slc7a7Lbu/Lbu mice exhibited reduced plasma and increased urinary concentrations of the cationic amino acids. ... Notably, treatment with methotrexate (MTX), another folic acid antagonist related to AMT, did not protect from kidney damage. ...
MESH TREE NUMBER CHANGES - 2007 MeSH. September 14, 2006
Inborn Errors C16.320.565.66 C18.452.648.66 Amino Acid Transport Disorders, Inborn C16.320.565.88 C16.320.565.151 C18.452. ... C18.654.521.500.133.770.734.750 Renal Tubular Transport, Inborn Errors C16.320.565.851 C13.351.968.419.815 C18.452.648.851 ... Guanylic Acid D3.438.759.646.454.525 5,8,11,14-Eicosatetraynoic Acid D10.251.355.255.49 D10.251.355.255.205 5-alpha- ... J1.637.51.720.327 Electron Transport G6.535.553.350 Electron Transport Complex I D12.776.157.530.450.250.875.437 D12.776. ...
Getting To Know Cancer Home Page
... fatty acid and amino acid oxidation, and the electron transport chain. ... They are also interested in a class of pediatric disorders called the inborn errors of metabolism which are caused by mutations ... the role of host immune system in ascorbic acid treatment; the mechanisms of action of ascorbic acid when combined with arsenic ... His current research focuses on the preclinical assessment of physiologic doses of ascorbic acid in combination with ...
Guanidinoacetate methyltransferase deficiency: MedlinePlus Genetics
Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Explore ... Amino Acid Metabolism Disorders. *Developmental Disabilities. *Epilepsy. *Genetic Brain Disorders. *Genetic Disorders ... Braissant O. GAMT deficiency: 20 years of a treatable inborn error of metabolism. Mol Genet Metab. 2014 Jan;111(1):1-3. doi: ... Beard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. J Neurochem. 2010 Oct; ...
Classification-Schedules
Amino acid metabolism inborn errors Classify works on albinism in WR 265. ... Vitamin Deficiencies Nutrition Disorders Metabolic Diseases Water-Electrolyte Imbalance. Acid-Base Imbalance Cells Genetics ... on errors of renal tubular transport in WJ 301. ... Lipid metabolism disorders Classify inborn errors in QU 265.5. ... Amino Acids. Peptides Carbohydrates. Lipids Biochemistry of the Human Body Enzymes Nutrition Vitamins. ...
Carnitine Deficiency: Background, Pathophysiology, Epidemiology
It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. ... Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and ... Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin ... Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and ...
NCIt Code NCIt PT NICHD NRNT PT NICHD NRNT SY NCIt Definition NICHD Definition NCIt Code of NICHD Parent NICHD Parent PT NCIt...
C97090 Amino Acid Metabolism Disorder Amino Acid Metabolism Disorder Disorder of Amino Acid Metabolism An inherited disorder ... Terminology C84785 Inborn Urea Cycle Disorder Urea Cycle Metabolism Disorder Disorder of Urea Cycle Metabolism A genetic inborn ... Renal Carnitine Transport Defect An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is ... Organic Acid Metabolism Disorder Organic Acid Metabolism Disorder Disorder of Organic Acid Metabolism An inherited disorder ...
Podcast: Newborn screening saves lives | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
She was placed on the amino acid supplements - glycine and l-carnitine -- that helped her body excrete the isovaleric acid that ... immediately and they had already arranged for transport. Once Stephen was transported to the nearest hospital with the ... When I first got involved I thought all I needed to do was advocate to get our disorder, IVA, on the screenable panel of ... the geneticists and intensivist ordered the lab work where they already mentioned an inborn-error metabolism and they explained ...
Carnitine Deficiency Workup: Laboratory Studies, Imaging Studies, Other Tests
It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. ... Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and ... fatty acid oxidation disorders, organic acidemias) because acyl-CoA intermediates proximal to the block in fatty acid or amino ... transport defects and inborn errors of beta-oxidation. Crit Rev Clin Lab Sci. 1992. 29(3-4):217-42. [QxMD MEDLINE Link]. ...
Clinical Biochemical Genetics | Johns Hopkins Institute of Genetic Medicine
The laboratory provides training in the diagnosis of inborn errors of amino acid , organic acid, fatty acid, sterol, creatine, ... organic acid, and fatty acid metabolism, cholesterol biosynthesis, creatine biosynthesis and transport, and peroxisome ... and follow-up of children and adults with Metabolic Disorders. Biochemical Genetics fellows with Clinical Genetics training/ ... Gain experience in the laboratory diagnosis of inborn errors of amino acid, ...
Altmetric - Inborn Metabolic Diseases
Chapter 25 Disorders of Proline and Serine Metabolism * Altmetric Badge. Chapter 26 Transport Defects of Amino Acids at the ... Chapter 23 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism ... Chapter 38 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc ... Chapter 13 Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways ...
Evolution and Innovations of the National Neonatal and High Risk Screening Program in Costa Rica
Leucine and tissue distribution of bulky and small neutral amino acids in rats: Dissociation between transport and insulin- ... Spanish group for the study of inborn errors of metabolism. Neonatal screening programme for aminoacid disorders and congenital ... The concentration pattern of amino acids observed in non treated PKU patients was very closely reproduced for the first time, ... Evidence of inhibition of exodus of small neutral amino acids in non brain tissues of hyperphenylalaninemic rats. J. Inher. Met ...
BUPHENYL® (sodium phenylbutyrate) Tablets BUPHENYL® (sodium phenylbutyrate) Powder
The allocation of dietary nitrogen into natural protein and essential amino acids is a function of age, residual urea cycle ... Patients with urea cycle disorders usually should not take Depakene® (valproic acid), a drug sometimes prescribed for seizure ... Probenecid is known to inhibit the renal transport of many organic compounds, including hippuric acid, and may affect renal ... use caution when administering the drug to patients with hepatic or renal insufficiency or inborn errors of beta oxidation. ...
MCQs on Enzyme Regulatory strategies (Allosteric control, Zymogen activation, Isoenzyme and Reversible covalent modifications) ...
Inborn errors of Amino acid catabolic pathways. May 18, 2022. Lipoproteins (Chylomicrons, VLDL, LDL & HDL); Defects in ... Oxidative Phosphorylation IV: Transport of ADP, Pi and cytosolic electrons to Mitochondria; Regulation of oxidative ... Fatty acid synthesis, Regulation of fatty acid synthesis, Long chain fatty acid synthesis, Desaturation of saturated fatty acid ... General reactions of amino acid metabolism: Transamination, Oxidative and Non-oxidative Deamination and Decarboxylation. April ...
Carnitine - Health Professional Fact Sheet
Because carnitine transports fatty acids into the mitochondria and acts as a cofactor for fatty acid oxidation, researchers ... Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids. . ... Inborn errors of metabolism. In: de Vries LS, Glass HC, eds. Handbook of Clinical Neurology, vol. 162: Neonatal Neurology. ... Practice recommendations for the use of L-carnitine in dialysis-related carnitine disorder. Am J Kidney Dis 2003;41:868-76. [ ...
Inborn error of metabolism
... Classification & external resources A few of the metabolic pathways in a ... Disorders of amino acid metabolism *E.g., phenylketonuria (E70.0), maple syrup urine disease (E71.0), glutaric acidemia type 1 ... Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, ... Metabolic pathology / Inborn error of metabolism (E70-90, 270-279). Amino acid. Aromatic (Phenylketonuria, Alkaptonuria, ...
Oregon State Public Health Laboratory Shares Lessons Learned from Its Newborn Screening Program | OneLab REACH
NBS started in just a few states screening for a single disorder - phenylketonuria - and has grown to a core panel of 37 ... And so many more inborn errors of metabolism were added-- amino acid disorders, organic acidemias, and fatty acid oxidation ... And so this delay in transport led to an inability to report results in a timely manner and an impact to children who had the ... thats highly supplemented in amino acids, then we wont really be able to get a good look at what the actual amino acid ...
Diseases Under Study
The organic acidemias (OAs) are a group of inherited metabolic disorders, which disrupt branch chain amino acid, odd-chain ... Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism. Pediatr Clin ... a defect in the transport or synthesis of its cofactor, 5-deoxyadenosylcobalamin; or deficiency of the enzyme methylmalonyl- ... The current management of PA relies upon dietary restriction of branch chain amino acid precursors, carnitine supplementation ...
Questioning Answers: March 2019
"Perturbed gut-brain amino acid and lipid metabolism in SCZ microbiota recipient mice." Gut bacteria produce chemicals (for ... and its transporting duties of long-chain fatty acids to the cell powerhouse for energy conversion. You probably wont be ... This included language disorders, attention-deficit hyperactivity disorder (ADHD) and even the signs and symptoms of psychosis ... A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S ...
PA-15-258: Administrative Supplements for Research on Dietary Supplements (Admin Supp)
In the US, these ingredients are usually defined as including plant extracts, enzymes, vitamins, minerals, amino acids, and ... the transport and metabolism of orally administered folic acid or a study to evaluate the mechanism of action of the various ... Studies that involve dietary ingredients used to treat inborn errors of metabolism, such as a study investigating the use of ... National Institute on Deafness and Other Communication Disorders (NIDCD). Telephone: 301-402-3458. Email: [email protected] ...
A00 0 Cholera Cholera
0 Disorders of amino-acid transport Disorders of amino-acid transport 04637 E7200 1 Disorders of amino-acid transport, ... 1 Carnitine deficiency due to inborn errors of metabolism Carnitine deficiency due to inborn errors of metabolism 04613 E7143 1 ... 1 Other disorders of amino-acid transport Other disorders of amino-acid transport 04643 E721 0 Disorders of sulfur-bearing ... amino-acid metabolism Disorders of sulfur-bearing amino-acid metabolism 04644 E7210 1 Disorders of sulfur-bearing amino-acid ...
MetabolismPhenylketonuriaLong-chainPeroxisomalPeptidesMetabolic DiseasesDefectiveMitochondrialBiosynthesisAcylcarnitinesTreatableOxidativeDegradationSynthesisSecondary carnitine deficiencyOrganic acid analysisNucleic acidPlasma carnitineRenalKetogenesisAutosomal recessiveUrineCompounds2019GeneticMutationsProteinMCADFetusClinicalLipidEssentialDetectionLiverSequenceLevelsIncludeSingleRareGroupChildren
Metabolism14
- monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
- Braissant O. GAMT deficiency: 20 years of a treatable inborn error of metabolism. (medlineplus.gov)
- The laboratory provides training in the diagnosis of inborn errors of amino acid , organic acid, fatty acid, sterol, creatine, and peroxisomal metabolism using a variety of techniques including amino acid analysis by anion exchange chromatography, organic acid analysis by gas chromatography/mass spectrometry, acylcarnitine analysis by tandem mass spectrometry, and sterol analysis by ion ratio gas chromatography/mass spectrometry, as well as numerous staple isotope gas chromatography/mass spectrometry methods. (hopkinsmedicine.org)
- Gain experience in the laboratory diagnosis of inborn errors of amino acid, organic acid, and fatty acid metabolism, cholesterol biosynthesis, creatine biosynthesis and transport, and peroxisome metabolism. (hopkinsmedicine.org)
- This feature is also observed in other inborn errors of metabolism that cause secondary carnitine deficiency, such as organic acidemias caused by the formation of carnitine esters. (medscape.com)
- Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism . (chemeurope.com)
- Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases , and these terms are considered synonymous. (chemeurope.com)
- The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century (1908). (chemeurope.com)
- His seminal text, Inborn Errors of Metabolism was published in 1923. (chemeurope.com)
- Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases . (chemeurope.com)
- In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. (chemeurope.com)
- It displays an anorectic effect on nutrient metabolism by inhibiting gastric acid secretion, gastric emptying and postprandial GLUCAGON secretion. (lookformedical.com)
- In this blog post, we will focus on models of Inborn Errors of Metabolism (IEM) and describe how these genetic conditions can lead to hypersensitivity to a metabolite. (clinphen.org)
- MCAD deficiency is the most common disorder of fatty acid ß-oxidation and one of the most common inborn errors of metabolism. (nih.gov)
Phenylketonuria2
- NBS started in just a few states screening for a single disorder - phenylketonuria - and has grown to a core panel of 37 conditions. (cdc.gov)
- NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. (handwiki.org)
Long-chain4
- It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. (medscape.com)
- [ 1 ] Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. (medscape.com)
- Consequently, long-chain fatty acids are not available for beta-oxidation and energy production, and the production of ketone bodies (which are used by the brain) is also impaired. (medscape.com)
- Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. (nih.gov)
Peroxisomal1
- In plants it interacts with peroxisomal transport protein PXA1. (inra.fr)
Peptides2
- It is cleaved by AMYLOID PRECURSOR PROTEIN SECRETASES to produce peptides of varying amino acid lengths. (lookformedical.com)
- A 39-42 amino acid peptide, AMYLOID BETA-PEPTIDES is a principal component of the extracellular amyloid in SENILE PLAQUES. (lookformedical.com)
Metabolic Diseases2
- In fact, with the control of diarrhea and other infectious illnesses, parasitosis and severe malnutrition ( de Céspedes 1991 ), chronic diseases such as cardiovascular disorders, cancer, congenital malformations, metabolic diseases and psychiatric disorders ( de Céspedes et a l. 1996b ) started to emerge. (scielo.sa.cr)
- [3] The development of tandem mass spectrometry (MS/MS) screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases that can be identified by characteristic patterns of amino acids and acylcarnitines . (handwiki.org)
Defective3
- Disorders characterized by defective transport of amino acids across cell membranes. (bvsalud.org)
- Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES . (nih.gov)
- Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. (nih.gov)
Mitochondrial1
- Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid ß-oxidation. (nih.gov)
Biosynthesis1
- Comparative gene identification 58 (CGI-58)/Alpha Beta Hydrolase Domain 5 (ABHD5) NCIE2 functions as an acyltransferase for the synthesis of phosphatidic acid, the major intermediate in membrane and storage lipid biosynthesis. (inra.fr)
Acylcarnitines1
- In secondary carnitine deficiency, which is caused by other metabolic disorders (eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion may be secondary to the formation of acylcarnitine adducts and the inhibition of carnitine transport in renal cells by acylcarnitines. (medscape.com)
Treatable1
- Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction for a defined panel of treatable disorders. (handwiki.org)
Oxidative1
- Acylcarnitine profile and free fatty acid levels: Tandem mass spectrometry analyses of acylcarnitine profile and free fatty acids may be used to detect metabolic defects that cause secondary carnitine deficiency (eg, fatty acid oxidation disorders, organic acidemias) because acyl-CoA intermediates proximal to the block in fatty acid or amino acid oxidative pathway may be transesterified to carnitine. (medscape.com)
Degradation1
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL . (biomedcentral.com)
Synthesis2
- Beard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. (medlineplus.gov)
- EC 4.1.3.4) is required not only for the catabolism of the essential branched-chain amino acid leucine, but also for the synthesis of the ketone bodies acetoacetate and 3-hydroxy- n -butyrate [ 1 ]. (biomedcentral.com)
Secondary carnitine deficiency3
- Valproic acid may cause an acquired type of secondary carnitine deficiency by directly impairing renal tubular reabsorption of carnitine. (medscape.com)
- The absence or low amounts of ketones in the urine, combined with the episode of hypoglycemia in primary carnitine deficiency (as well as in other defects in the carnitine cycle or fatty acid oxidation), causes secondary carnitine deficiency. (medscape.com)
- In cases of fatty acid oxidation disorders that cause secondary carnitine deficiency, inappropriate dicarboxylic aciduria occurs during periods of illness. (medscape.com)
Organic acid analysis2
- Urine organic acid levels: In primary carnitine deficiency, the urine organic acid analysis usually is normal. (medscape.com)
- Due to the accumulation of characteristic leucine metabolites HMGCLD can be diagnosed via urinary organic acid analysis and usually is associated with an abnormal blood acylcarnitine profile as well. (biomedcentral.com)
Nucleic acid1
- An examination of the nucleic acid sequence alignment of 48 full-length rubella virus genomes revealed that the 5' terminus of the genome is more conserved than the commonly used detection windows for rubella virus RNA located in the E1 protein coding region, suggesting that the 5' terminus could be a target for improving detection of all rubella virus genotypes. (cdc.gov)
Plasma carnitine1
- A feature of most fatty acid oxidation disorders is that they are associated with decreased plasma carnitine concentrations. (medscape.com)
Renal1
- Renal aminoaciduria are classified by the specific amino acid or acids involved. (nih.gov)
Ketogenesis1
- Fatty acid ß-oxidation fuels hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. (nih.gov)
Autosomal recessive1
- from OMIM) By examining the critical region for triglyceride storage disease with impaired long-chain fatty acid oxidation, a rare autosomal recessive form of NCIE (242100), on chromosome 3p21, Lefevre et al. (inra.fr)
Urine1
- A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE . (nih.gov)
Compounds2
- In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. (chemeurope.com)
- L-Lysine, also known as (S)-lysine or L-lysin, belongs to the class of organic compounds known as l-alpha-amino acids. (bovinedb.ca)
20191
- 2019). Two highly conserved ABHD5 amino acids (R299 and G328) enabled ABHD4 (ABHD4 N303R/S332G) to activate ATGL. (inra.fr)
Genetic1
- Ultimately, this report showcases how chemical hypersensitivity is generalizable to drug discovery tool applicable to many genetic disorders. (clinphen.org)
Mutations1
- SLC22A5 mutations can affect carnitine transport by impairing maturation of transporters to the plasma membrane. (medscape.com)
Protein1
- Once lipolysis is stimulated by catecholamines, protein kinase A (PKA)-mediated phosphorylation enables the dissociation of the CGI-58/PLIN1 complex, thereby recruiting adipose triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) to initiate fatty acid release. (inra.fr)
MCAD2
- Urinary organic acid profile usually is normal in these patients when they are well, except in cases of medium-chain 3-hydroxyacyl-CoA dehydrogenase (MCAD) deficiency. (medscape.com)
- In some disorders (eg, MCAD, LCHAD, short-chain acyl-CoA dehydrogenase [SCAD] deficiency) specific patterns can be seen. (medscape.com)
Fetus1
- These processes govern the availability of fatty acids to the developing fetus, where inadequate supply has been associated with substandard fetal growth. (inra.fr)
Clinical1
- mother and her son, who are able to skate together because of effective laboratory monitoring and clinical management of an inherited metabolic disorder. (cdc.gov)
Lipid1
- In disorders of fatty acid oxidation, excessive lipid accumulation occurs in muscle, heart, and liver, with cardiac and skeletal myopathy and hepatomegaly. (medscape.com)
Essential2
- Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine , resulting in irreversible intellectual disability . (handwiki.org)
- The microbiome produces short-chain fatty acids, amino acids, neurotransmitters, and vitamins-building blocks for every essential function of the body. (drbillcode.com)
Detection1
- Rare disorders with an annual detection rate of 2 to 5 per million. (medicalbiochemist.com)
Liver2
- Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and derived from meat and dairy products in the diet. (medscape.com)
- Other fatty acid oxidation disorders, such as long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, can present with liver involvement. (medscape.com)
Sequence1
- In the case of metabolic disorders, the high degree of sequence conservation in these ancient genes often enable the human gene to rescue the function of the removed ortholog (the animal's version of the disease gene). (clinphen.org)
Levels2
- Elevated serum CK levels may be observed in primary carnitine deficiency and in fatty acid oxidation disorders. (medscape.com)
- Blood Levels of Trace Elements in Children with Attention-Deficit Hyperactivity Disorder: Results from a Case-Control Study. (blogspot.com)
Include1
- Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics. (medlineplus.gov)
Single2
- This often renders the zebrafish's gene sufficient for modeling the patient condition as a single amino acid substitution, yet occasionally whole-gene humanization will need to be deployed. (clinphen.org)
- For iPSC, we source from a healthy patient (reference line - "wt Avatar") and make the single amino acid variation to model the patient variant condition (var-Avatar). (clinphen.org)
Rare1
- Guanidinoacetate methyltransferase deficiency is a very rare disorder. (medlineplus.gov)
Group1
- A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. (lookformedical.com)
Children1
- 2] Villagomez A. & Ramtekkar U. Iron, Magnesium, Vitamin D, and Zinc Deficiencies in Children Presenting with Symptoms of Attention-Deficit/Hyperactivity Disorder. (blogspot.com)