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1,306 Possible Causes for (NAD(P), ), biosynthesis,, dehydrogenase, glutamate, glutamate, using

  • 3-Phosphoglycerate Dehydrogenase Deficiency

    We are indebted to tions,we can say that much of what was said there still all colleagues who allowed us to use their MR images, holds.[] Abstract 3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a).[] (P)-bd_dom_sf IPR006236 PGDH Pfam i View protein in Pfam PF00389 2-Hacid_dh, 1 hit PF02826 2-Hacid_dh_C, 1 hit SUPFAM i SSF143548 SSF143548, 1 hit SSF51735 SSF51735, 1[] Aminolevulinic acid CoA βine Homocysteine L-Methionine S-Adenosylhomocysteine S-Adenosylmethionine Dissipation Glycine Glyceric acid ATP ADP NAD Phosphohydroxypyruvic acid NADH L-Glutamic[] Abstract 3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation[] Abstract 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe[]

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  • Hyperammonemia

    RESULTS: The number of patients who developed hyperammonemia during VPA-based therapy was 20 (9.9%) using the 200 μg/dL cutoff value and 30 (14.9%) using the 170 μg/dL cutoff[] […] second most common cause of hyperinsulinemic hypoglycemia of infancy, and it is caused by activating mutations in GLUD1, the gene that encodes mitochondrial enzyme glutamate dehydrogenase[] ( p ) h nicotinamide adenine dinucleotide (phosphate); ass argininosuccinate synthetase; asl argininosuccinate lyase; arg1 arginase 1; ornt1 ornithine transporter; oat ornithine[] OBJECTIVE: The aim of this research letter was to describe the use of N-carbamoyl-L-glutamate as first-line treatment of hyperammonemia in a 4-month-old female patient with[] , that might be due to divergence of unutilized Carbamoyl-P towards the pathway of pyrimidine biosynthesis.[] The genetic diagnosis revealed that the patient carried a heterozygous, de novo missense mutation (N410I, c.1401A T) in the glutamate dehydrogenase 1 gene (GLUD1).[]

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  • Infantile 3-Phosphoglycerate Dehydrogenase Deficiency

    Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources.[] Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency .[] (P)-bd_dom_sf IPR006236 PGDH Pfam i View protein in Pfam PF00389 2-Hacid_dh, 1 hit PF02826 2-Hacid_dh_C, 1 hit SUPFAM i SSF143548 SSF143548, 1 hit SSF51735 SSF51735, 1[] Deficiency Gaucher Disease Glucose Galactose Malabsorption Glucose-6-Phosphate Dehydrogenase Deficiency G6PD GLUT1 Deficiency Syndrome Glucose Transporter Type 1 Deficiency Glutamate[] Abstract Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the[] The mechanism underlying the SB pattern partly depends on glutamate - or glycine, the coneurotransmitter for NMDA transmission - overflow, mainly in the immature brain [29[]

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  • Aldehyde

    Using a multiple reaction-monitoring mass spectrometry analysis, we found that multiple ALDH isozymes were generally abundant in NSCLC cells compared with their levels in[] These enzymes include alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), which play a significant role in the metabolism of many biological substances and exist[] Can use ferredoxin or methylviologen but not NAD(P) as electron acceptor. Please wait a moment until the data is sorted.[] Head and neck CSC (CD44 hi /ALDH hi ) exhibited higher glutaminase, glutamate, and sphere levels than CD44 lo /ALDH lo cells.[] Allison , Robert Zellerhoff , Jürgen Wassen Angewandte Chemie 1979 91 (7), 579-581 BIOSYNTHESIS OF BENZALDEHYDE, BENZYL ALCOHOL AND BENZYL BENZOATE FROM BENZOIC ACID IN CRANBERRY[] IHC was performed using an immunoperoxidase method with a primary polyclonal rabbit anti-ALDH1A1 antibody.[]

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  • Sarcosinemia

    The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[] Sarcosine is a key intermediate in 1-carbon metabolism and under normal circumstances is converted to glycine by the enzyme sarcosine dehydrogenase.[] BioCyc Guanidinoacetate N-methyltransferase 743 ChemSpider 5-AMINO-LEVULINATE BioCyc Aminomethyltransferase, mitochondrial 740 ChemSpider 3-P-SERINE BioCyc SMILES [H][[email protected]@[] […] α-ketoglutarate Histidine Carnosinemia · Histidinemia · Urocanic aciduria Proline Hyperprolinemia · Prolidase deficiency Glutamate / glutamine SSADHD G propionyl-CoA succinyl-CoA[] An important gene associated with Sarcosinemia is SARDH (Sarcosine Dehydrogenase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Glycine[] Copyright 1984 by the American Academy of Pediatrics Log in using your username and password Log in through your institution You may be able to gain access using your login[]

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  • Dihydropyrimidine Dehydrogenase Deficiency

    […] profoundly DPD-deficient) ingested an aqueous solution of 2-(13)C-uracil (6 mg/kg). (13)CO(2) levels were determined in exhaled breath at various time intervals up to 180 min using[] Dihydropyrimidine dehydrogenase deficiency (disorder) Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea Dihydropyrimidine dehydrogenase deficiency[] […] thymine NAD(P)H dihydrothymine NAD(P) - - - r thymine NADH H 5,6-dihydrothymine NAD thymine NADH H dihydrothymine NAD - - - r uracil NAD(P)H 5,6-dihydrouracil NAD(P) uracil[] Glycine Glyoxylic acid Guanidoacetic acid Homocysteine Hydrogen peroxide Hydroxypyruvic acid L-2-Amino-3-oxobutanoic acid L-Alanine L-Arginine L-Cystathionine L-Cysteine L-Glutamic[] […] dictionary Also found in: Acronyms, Wikipedia. di·hy·dro·py·rim·i·dine de·hy·dro·gen·ase ( dī-hī'drō-pī-rim'ĭ-dēn dē-hī'drō-jen-ās' ), [MIM*274270] An enzyme in pyrimidine biosynthesis[] Detection of complete Dihydropyrimidine Dehydrogenase deficiency in a Tunisian family using a simple phenotypic test.[]

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  • Influenza

    The following recommendations focus on the appropriate use of masks as part of a group of influenza control strategies in healthcare settings.[] […] lymphopenia, elevated amino-transaminases, thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D-Dimer, increased serum lactate dehydrogenase[] […] viruses from the brains of dead mice infected with this strain (without any prior adaptation to mice) had substituted the amino acid at position 627 of the PB2 protein from glutamic[] […] infection and the immune response Antecedent viral infection appears to be a sine qua non for development of RS. 1 Viral RNA frequently diverts host endoplasmic reticulum to biosynthesis[] […] lymphopenia, elevated amino‐transaminases, thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D‐Dimer, increased serum lactate dehydrogenase[] The high proton selectivity of the channel is lost when transmembrane domain His 37 is replaced with glycine, alanine, glutamic acid, serine, or threonine ( 22 , 23 ), making[]

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  • Isovaleric Acidemia

    Methanol extract from DBS was dried and derivatized using N-methyl-N-(tert-butyldimethylsilyl)-trifluoroacetamide.[] We subsequently identified and purified isovaleryl-CoA dehydrogenase (IVD) and 2-methyl-branched chain acyl-CoA dehydrogenase, which were previously unknown.[] 2-Methylacetoacetyl-CoA NADH CoA H 2 O NAD CoA NADH Hydrogen carbonate ATP Hydrogen carbonate S-Methylmalonyl-CoA ADP P i R-Methylmalonyl-CoA H 2 O O 2 Methylmalonic acid[] […] acid is not known, but it is an inhibitor of succinyl-CoA ligase in the tricarboxylic acid cycle and inhibits liver but not muscle mitochondrial oxygen consumption with glutamic[] Back to top Congenital Adrenal Hyperplasia A family of diseases whose common feature is an enzymatic defect in the steroidogenic pathway leading to the biosynthesis of cortisol[] Biosynthesis of nutritionally nonessestial amino acids. In: Murray RK, Bender DA, Botham KM, Kennelly PJ, Rodwell VW, Weil PA, editors.[]

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  • 2-Hydroxyglutaric Aciduria

    We also used mass spectrometric methods to measure the levels of 2HG in plasma and serum.[] Taken together, these data indicate that L-2-hydroxyglutaric aciduria is due to a deficiency in L-2-hydroxyglutarate dehydrogenase.[] (P)-binding domain of L2HGDH protein.[] The multiplet at 2.10-2.50 ppm might have been created by elevated glutamate and glutamine or l-2-hydroxyglutaric acid itself, which has a similar chemical structure to glutamate[] IDH1 catalyzes the reductive carboxylation of α-KG to isocitrate, which can then be further metabolized to acetyl-CoA to support lipid biosynthesis [ 12 - 14 ].[] Incubations with [(2)H5]glutamic acid as precursor revealed the formation of identical isotopomers for 2-KG and L-2-HG.[]

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  • Carotenoid

    The leukocyte telomere length (T/S ratio) was assayed using the quantitative polymerase chain reaction method.[] These desaturase enzymes are dehydrogenases that remove hydrogen atoms and electrons from molecules, forming double bonds.[] ) to NAD(P)H)] followed by a subsequent mitochondrial ATP synthesis.[] […] and pteroyl-L-glutamic acid.[] Transgenic Res 16:581–585 CrossRef PubMed Google Scholar Lu S, Li L (2008) Carotenoid metabolism: biosynthesis, regulation, and beyond.[] Maki Teramoto, Nina Rählert, Norihiko Misawa and Gerhard Sandmann , 1‐Hydroxy monocyclic carotenoid 3,4‐dehydrogenase from a marine bacterium that produces myxol , FEBS Letters[]

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