• Then, the C-terminal portion of this enzyme, which contains saccharopine dehydrogenase (SHD) activity (EC:1.5.1.9), catalyzes the oxidation of saccharopine to produce alpha-aminoadipic semialdehyde and glutamate (Reaction 2 on the figure to the right). (wikipedia.org)
  • Other names for this condition include: alpha-aminoadipic semialdehyde deficiency disease familial hyperlysinemia lysine alpha-ketoglutarate reductase deficiency disease saccharopine dehydrogenase deficiency disease saccharopinuria Hyperlysinemia is characterized by elevated plasma lysine levels that exceed 600 μmol/L and can reach up to 2000 μmol/L. These increased levels of lysine do not appear to have any negative effects on the body. (wikipedia.org)
  • Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare inborn error of metabolism that is inherited in an autosomal recessive pattern. (rarediseases.org)
  • Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. (nih.gov)
  • Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikidoc.org)
  • However, because of the deficiency, the final intermediate of the GABA degradation pathway, succinic semialdehyde, accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma-hydroxybutyric dehydrogenase. (wikidoc.org)
  • Succinic semialdehyde dehydrogenase deficiency has an autosomal recessive pattern of inheritance. (wikidoc.org)
  • Succinate-Semialdehyde Dehydrogenase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • This graph shows the total number of publications written about "Succinate-Semialdehyde Dehydrogenase" by people in Harvard Catalyst Profiles by year, and whether "Succinate-Semialdehyde Dehydrogenase" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Succinate-Semialdehyde Dehydrogenase" by people in Profiles. (harvard.edu)
  • Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency. (harvard.edu)
  • Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. (harvard.edu)
  • Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. (harvard.edu)
  • Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. (harvard.edu)
  • aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. (harvard.edu)
  • Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. (harvard.edu)
  • Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. (harvard.edu)
  • Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. (harvard.edu)
  • Sam, who lives in Wisconsin, was eventually diagnosed with a rare metabolic condition called succinic semialdehyde dehydrogenase (SSADH) deficiency, marking the 81st known case in the world. (childrenshospital.org)
  • Subsequent studies showed elevated pipecolic acid levels in the plasma and cerebrospinal fluid of affected patients and this led to the recognition of a defect in aaminoadipic semialdehyde (a-AASA) dehydrogenase (antiquitin) in the cerebral lysine degradation pathway, and mutations in the antiquitin gene (ALDH7A1) on chromosome 5q31. (medscape.com)
  • The accumulation of HBA metabolites was associated with lower expression of succinic semialdehyde dehydrogenase (encoded by ALDH5A1), and with the presence of an epithelial-to-mesenchymal-transition (EMT) gene signature, implying a role for these metabolic alterations in cancer cell migration and invasion. (cam.ac.uk)
  • Allysine will be degraded to form aminoadipic acid through alpha-aminoadipic semialdehyde dehydrogenase. (smpdb.ca)
  • The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by Tondo et al. (nih.gov)
  • 2006) that encodes α-aminoadipic-semialdehyde-dehydrogenase, which is also known as "Antiquitin" (Lee et al. (cheoresearch.ca)
  • Semialdehyde dehydrogenase, NAD-binding [Interproscan]. (ntu.edu.sg)
  • SSADH deficiency leads to abnormal accumulation of the compound succinic semialdehyde, which is reduced or converted to 4-hydroxybutyric acid, also known as GHB (gamma-hydroxybutyric acid). (rarediseases.org)
  • GABA is metabolized by successive transamination and oxidation to yield succinic semialdehyde and succinic acid respectively via the catalyzing effects of GABA transaminase . (wikidoc.org)
  • Clenbuterol hapten succinic semialdehyde. (alcafricanos.com)
  • Hapten Succinic Semialdehyde (HSS) is a derivative of Clenbuterol that has been gaining popularity in the fitness industry due to its unique properties. (alcafricanos.com)
  • In this article, we will explore the facts and benefits of Clenbuterol Hapten Succinic Semialdehyde, including its mechanism of action, dosage, and potential side effects. (alcafricanos.com)
  • By the end of this article, you will have a comprehensive understanding of Clenbuterol Hapten Succinic Semialdehyde and its potential advantages and drawbacks, enabling you to make an informed decision on whether it is a suitable supplement for your fitness goals. (alcafricanos.com)
  • Inborn errors of metabolism form a large group of genetic diseases involving defects in genes coding for enzymes, receptors, cofactors etc. in metabolic pathways [ 1 ]. (alliedacademies.org)
  • An enzyme that plays a role in the GLUTAMATE and butanoate metabolism pathways by catalyzing the oxidation of succinate semialdehyde to SUCCINATE using NAD+ as a coenzyme. (harvard.edu)
  • At the same time, the metabolic phenotype was used for genome-wide association analysis to analyze its genetic model and identify genes related to metabolite synthesis and metabolic pathways. (biomedcentral.com)
  • 1 L/d drinking water in healthy, normal weight, young men, 2) identify metabolic pathways potentially impacted by chronic hypotonicity, and 3) explore if effects of chronic hypotonicity differ by type of specimen and/or acute hydration condition. (ppexmed.com)
  • Similar metabolic pathways appeared potentially impacted in urine, but the directions of impact differed by specimen type. (ppexmed.com)
  • As cofactors of metabolic enzymes, NAD+ and its reduced form, NADH, function in redox re-actions in central metabolic pathways including glycolysis, tricarboxylic acid (TCA) cycle, oxidative phosphorylation, and one-carbon metabolism and control the direction of flux through these pathways. (cheoresearch.ca)
  • As a cosubstrate of the sirtuins and poly-(ADP-ribose) polymerases, NAD+ mediates posttranslational modification of metabolic enzymes, DNA repair and chromatin-modifying proteins, and other factors involved in stress response and signaling pathways that connect metabolism to different physiological responses (1). (cheoresearch.ca)
  • Alpha-aminoadipic semialdehyde synthase is an enzyme encoded by the AASS gene in humans and is involved in their major lysine degradation pathway. (wikipedia.org)
  • The alpha-aminoadipic semialdehyde synthase protein catalyzes the first two steps in the mammalian L-lysine degradation via saccharopine pathway within the mitochondria, which is thought to be the main metabolic route for lysine degradation in upper eukaryotes. (wikipedia.org)
  • C5H8O2 use glutaraldehyde could be exposed to it The major metabolic pathway for in air. (cdc.gov)
  • In addition, the bidirectional loop pathway and its unique metabolic synapse between hepatocytes and HSCs are discussed. (e-cmh.org)
  • As little as one base change in a gene that encodes, a metabolic pathway component conferred multiple forms of resistance to multiple antibiotics with different targets. (opensourcebiology.eu)
  • We apply the method to a model of the threonine synthesis pathway: the integration of metabolic data has little effect on the marginal posterior distributions of individual model parameters. (biomedcentral.com)
  • Polyoxin, a peptidyl nucleoside antibiotic, consists of three building blocks including a nucleoside skeleton, polyoximic acid (POIA), and carbamoylpolyoxamic acid (CPOAA), however, little is known about the "pathway redundancy" of the metabolic networks directing the CPOAA biosynthesis in the cell factories of the polyoxin producer. (biomedcentral.com)
  • Here we report the genetic characterization of CPOAA biosynthesis with revealing a "pathway redundancy" in metabolic networks. (biomedcentral.com)
  • These data should provide an example for the research on the "pathway redundancy" in metabolic networks, and lay a solid foundation for targeted enhancement of polyoxin production with synthetic biology strategies. (biomedcentral.com)
  • Catechol dioxygenases in microorganisms cleave catechol into cis - cis -muconic acid or 2-hydroxymuconic semialdehyde via the ortho- or meta- pathway, respectively. (preprints.org)
  • Characterization and optimization of C12O activity can assist in understanding the 2,4-DCP metabolic pathway in Pc UFB2 and its possible application in bioremediation strategies. (preprints.org)
  • Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. (ox.ac.uk)
  • Mitochondrial ornithine aminotransferase (OAT) catalyzes the reversible reaction of ornithine and alpha-ketoglutarate to form glutamate semialdehyde and glutamate (Ohura et al. (reactome.org)
  • In this review, we briefly describe the underlying mechanisms of oxidative stress-mediated glutamate secretion and endocannabinoid production in alcoholic steatosis and suggest a novel metabolic synapse between hepatic stellate cells (HSCs) and hepatocytes. (e-cmh.org)
  • 1-Pyrroline-5-carboxylic acid (CAS: 2906-39-0) is an enamine or an imino acid that forms upon the spontaneous dehydration of L-glutamate gamma-semialdehyde in aqueous solutions. (hmdb.ca)
  • Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. (alliedacademies.org)
  • Nicotinamide adenine dinucleotide (NAD) is an essential cofactor in redox metabolism and metabolic signaling. (cheoresearch.ca)
  • Chemical and metabolic testing of the blood can indicate some muscle disorders, protein or fat-related disorders that affect the brain and inborn errors of metabolism. (medlink.com)
  • 11 Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece. (nih.gov)
  • Using relatively simple tests involving the detection of amino acids and acylcarnitines in dried blood spots on filter paper, Tandem Mass Spectrometry (TMS) allows for rapid screening and diagnosis of more than 40 metabolic disorders in amino acids, organic acids, and fatty acid oxidation, substantially improving the efficiency and accuracy of early diagnosis [ 5 , 6 ]. (alliedacademies.org)
  • B6 dependency syndromes are a group of metabolic disorders which respond to large doses of vitamin B6. (medscape.com)
  • Palo Alto, Calif. - November 2, 2022 - OrsoBio, Inc., a clinical-stage biopharmaceutical company developing treatments for severe metabolic disorders, today announced its acquisition of an ACMSD inhibitor program from Mitobridge, an Astellas Company. (orsobio.com)
  • The program includes a range of proprietary compounds being evaluated for their potential to address mitochondrial dysfunction in metabolic and inflammatory liver and kidney disorders. (orsobio.com)
  • OrsoBio's preclinical portfolio of ACMSD inhibitors, including TLC-065, is being advanced for the treatment of a range of metabolic and inflammatory liver and kidney disorders. (orsobio.com)
  • OrsoBio, Inc. is a privately held, clinical-stage biopharmaceutical company dedicated to developing therapies to treat severe metabolic disorders, including type 2 diabetes, severe dyslipidemias, lipodystrophies, and nonalcoholic steatohepatitis. (orsobio.com)
  • Causal effects of chronic whole-body hydration on metabolic syndrome-related disorders and mortality are hypothesized based on cell hydration effects [12-16], but remain to be confirmed. (ppexmed.com)
  • Her laboratory aims to investigate molecular mechanisms of rare metabolic disorders affecting the pediatric population. (cheoresearch.ca)
  • In humans, mutations in the AASS gene, and the corresponding alpha-aminoadipic semialdehyde synthase enzyme are associated with familial hyperlysinemia. (wikipedia.org)
  • Thus, the function of alpha-aminoadipic semialdehyde synthase is tied to the levels of two integral compounds within the body. (wikipedia.org)
  • The C-terminal portion of alpha-aminoadipic semialdehyde synthase contains the SHD activity and the N-terminal portion contains LKR. (wikipedia.org)
  • To date, a structure of alpha-aminoadipic semialdehyde synthase has not been determined. (wikipedia.org)
  • Alpha-aminoadipic semialdehyde synthase is encoded for by the AASS gene, and mutations in this gene lead to hyperlysinemia. (wikipedia.org)
  • L-Lysine and oxoglutaric acid will be combined to form saccharopine by facilitation of mitochondrial alpha-aminoadipic semialdehyde synthase, and then, mitochondrial alpha-aminoadipic semialdehyde synthase will further breaks saccharopine down to allysine and glutamic acid. (smpdb.ca)
  • Translating a known metabolic network into a dynamic model requires reasonable guesses of all enzyme parameters. (biomedcentral.com)
  • The structure of the metabolic system (i.e., stoichiometries and enzyme regulation) needs to be known, and the reactions are modelled by convenience kinetics with thermodynamically independent parameters. (biomedcentral.com)
  • an improved second posterior is obtained by integrating metabolic fluxes, concentrations, and enzyme concentrations for one or more steady states. (biomedcentral.com)
  • ACMSD (aminocarboxymuconate semialdehyde decarboxylase) is a key enzyme involved in the de novo synthesis of NAD + , which is critical to mitochondrial function via maintenance of cellular redox state, sirtuin-mediated signaling, and overall energy homeostasis. (orsobio.com)
  • ACMSD (aminocarboxymuconate semialdehyde decarboxylase) is a key enzyme involved in the de novo synthesis of NAD + from tryptophan. (orsobio.com)
  • Loss of ALDH7A1 enzyme function leads to the pathogenic accumulation of the lysine intermediates aminoadipate semialdehyde (AASA) and its cyclic equilibrium form piperideine 6-carboxylate (P6C) in tissues including the central nervous system (CNS) [4] (Figure 1). (cheoresearch.ca)
  • Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. (nih.gov)
  • Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. (nih.gov)
  • An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (mcw.edu)
  • 10 VKS: Dutch Patient Organization for Metabolic Diseases, Zwolle, The Netherlands. (nih.gov)
  • Metabolite GWAS has found effective therapeutic targets for metabolic diseases, such as human kidney disease and type 2 diabetes [ 10 ]. (biomedcentral.com)
  • I see tremendous therapeutic potential in OrsoBio's ACMSD inhibitors across a spectrum of metabolic and inflammatory hepatic and renal diseases. (orsobio.com)
  • Meanwhile, we used mGWAS to analyze the genetic basis of chicken metabolic traits and metabolites and to improve chicken breeding. (biomedcentral.com)
  • A complete evaluation for acute provoked seizures (eg, due to hypoxic-ischemic injury, stroke, infection, or metabolic causes) remains necessary even when a familial epilepsy syndrome is suspected. (medilib.ir)
  • However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al. (nih.gov)
  • Most common reason for referral was metabolic encephalopathy, followed by global developmental delay and seizure disorder with less common being hypoglycemia, hepatic failure etc. (alliedacademies.org)
  • This heterogeneity can potentially be epigenetic ( 4 ), transcriptional ( 5 ), posttranscriptional ( 6 ), translational ( 7 ), posttranslational ( 8 ), or metabolic ( 9 ) and can also arise from biased partitioning of cellular components during division ( 10 , 11 ). (opensourcebiology.eu)
  • This could greatly improve our understanding of chicken serum metabolic profiles and metabolic phenotypes, providing a strong foundation for future studies on the mechanisms and localization of chicken economic traits. (biomedcentral.com)
  • Any fungal metabolite produced during a metabolic reaction in Baker's yeast ( Saccharomyces cerevisiae ). (ebi.ac.uk)
  • Any mammalian metabolite produced during a metabolic reaction in a mouse ( Mus musculus ). (ebi.ac.uk)
  • Any mammalian metabolite produced during a metabolic reaction in humans ( Homo sapiens ). (ebi.ac.uk)
  • The present study is the comprehensive data analysis of tandem mass spectrometry and urine metabolic pattern for the diagnosis of IEM by GC/MS in samples received for high-risk IEM screening. (alliedacademies.org)
  • 1 L/d drinking water, urine osmolality decreased below 800 mOsm/kg H 2 O and saliva osmolality decreased below 100 mOsm/kg H 2 O. Between Week 1 and Week 6, 325 of 562 metabolic features in serum changed by 2-fold or more relative to creatinine. (ppexmed.com)
  • 1 L/d drinking water was associated with profound changes in serum and urine metabolomic profile, which suggested normalization of an aestivation-like metabolic pattern and a switch away from a Warburg-like pattern. (ppexmed.com)
  • Analyzing urine samples can reveal toxins, abnormal metabolic substances, proteins that cause disease, or signs of certain infections. (medlink.com)
  • We use genome-resolved metagenomics to compare the structure, metabolic traits, and population genomes of drinking water microbiome samples from bulk drinking water across multiple full-scale disinfected and non-disinfected drinking water systems. (biomedcentral.com)
  • This is particularly true for seizures associated with metabolic disturbances (eg, hypoglycemia, hypocalcemia, and hypomagnesemia) or central nervous system (CNS) or systemic infections. (medilib.ir)
  • Virological and metabolic analyses were performed on (minimally invasive) collected oral swabs, rectal swabs, and nasal washes. (mdpi.com)
  • On chronic ethanol consumption, ethanol is mainly metabolized in perivenous hepatocytes with high expression of CYP2E1, inducing metabolic stress-mediated death and regeneration of hepatocytes at zone 3. (e-cmh.org)