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151 results for

Inborn Error of Small Molecule Metabolism

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141. A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis

, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Pyrimethamine Antimalarials Antiprotozoal Agents Antiparasitic Agents Anti-Infective Agents Folic Acid Antagonists Enzyme Inhibitors Molecular Mechanisms of Pharmacological Action (...) , the lysosomes increase in size and number, giving rise to a storage disease. The majority of the mutations in Hex A affect the ability of the enzyme to obtain and/or retain its native 3-dimensional fold in the endoplasmic reticulum (ER) where intracellular quality control is performed to retain and degrade defective enzymes. Pharmacological chaperones (PC)s are small molecules that can stabilize the native conformation of a mutant enzyme in the ER and allow it to escape the ER's quality control system

2008 Clinical Trials

142. Nutritional and Neurotransmitter Changes in PKU Subjects on BH4

Dihydrochloride Nutrition PHE Phenylalanine PAH Phenylalanine hydroxylase Neurotransmitters Serotonin Catecholamines Diet Body Fat Bone Density Additional relevant MeSH terms: Layout table for MeSH terms Phenylketonurias Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases Verapamil Neurotransmitter Agents Anti-Arrhythmia (...) , since these changes could indicate improved neurological functioning, (5) and quality of life of PKU patients, who may feel less burdened due to the dietary freedom KuvanTM provides. Condition or disease Intervention/treatment Phenylketonuria Drug: KuvanTM Therapy Detailed Description: BACKGROUND : Tetrahydrobiopterin (BH4) is a treatment option newly available to phenylketonuria (PKU) patients within the United States as the pharmaceutical KuvanTM. This small molecule functions as a cofactor

2008 Clinical Trials

143. A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease

, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders (...) activity leads to an intracellular accumulation of the substrate GlcCer, primarily in macrophage cells. These lipid-laden macrophages, known as Gaucher cells, are the hallmark of the disease and their accumulation in the liver, bone marrow, and spleen elicits the clinical symptoms associated with GD. Pharmacological chaperone therapy is a novel approach to treat diseases due to protein misfolding/mistrafficking using small molecule ligands to rescue and increase the residual function of mutant proteins

2007 Clinical Trials

144. Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation

Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Cerebral Small Vessel Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders (...) : December 20, 2006 Last Update Posted : August 16, 2018 See Sponsor: Centogene AG Rostock Collaborator: Shire Human Genetic Therapies, Inc. Information provided by (Responsible Party): Anton Mamin, Centogene AG Rostock Study Details Study Description Go to Brief Summary: New studies indicate that in about 1 - 2 percent of the younger stroke patients the cause could have been an undiagnosed genetic disease, the so called Fabry disease. In this case certain fat molecules are not digested and broken down

2006 Clinical Trials

145. Gaucher's disease: a paradigm for interventional genetics. (Abstract)

Gaucher's disease: a paradigm for interventional genetics. Gaucher's disease (GD) is one of the most prevalent lysosomal storage disorders (LSDs) and a rare genetic disease for which specific therapy is now available. GD is an autosomal, recessive, inborn error of glycosphingolipid metabolism, due to a deficiency in the enzyme acid beta-glucosidase. Partial deficiency of acid beta-glucosidase is associated with parenchymal disease of the liver, spleen, and bone marrow with concomitant anemia (...) to be safe and effective in the treatment of type 1 GD, establishing imiglucerase as the current standard of care. Amelioration of hepatosplenomegaly and of hematological manifestations is usually apparent within 6-12 months, whereas the bone disease responds more slowly. ERT cannot reverse the neurological deficits in type 2 or type 3 GD. Small molecule inhibitors of glucosylceramide synthase are being developed for substrate reduction therapy. Other potential therapeutic options such as chaperon

2004 Clinical Genetics

146. Anderson-Fabry Disease

and European Guidelines. You may find one of our more useful. In this article In This Article Anderson-Fabry Disease In this article Synonyms: Fabry's disease, alpha-galactosidase A deficiency, hereditary dystopic lipidosis, GLA deficiency Anderson-Fabry disease is an X-linked recessive inborn error of glycosphingolipid metabolism caused by deficiency of alpha-galactosidase A. [ ] It was first described independently in 1898 by Anderson and Fabry but the enzyme deficiency was not defined until the 1960s (...) . The enzyme deficiency leads to defective storage of sphingolipid and progressive endothelial accumulation causing abnormalities in the skin, eye, kidney, heart, brain and peripheral nervous system. The gene responsible for alpha-galactosidase is located on the long arm of the X chromosome. There have been almost 200 mutations identified. Along with it is one of the most prevalent metabolic storage diseases (or lysosomal storage diseases). The gene mutation and enzyme deficiency result in insufficient

2008 Mentor

147. Primary hyperoxaluria type 1 in the Canary Islands: A conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase Full Text available with Trip Pro

Primary hyperoxaluria type 1 in the Canary Islands: A conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase Primary hyperoxaluria type 1 (PH1) is an inborn error of metabolism resulting from a deficiency of alanine:glyoxylate aminotransferase (AGXT; EC 2.6.1.44). Most of the PH1 alleles detected in the Canary Islands carry the Ile-244 --> Thr (I244T) mutation in the AGXT gene, with 14 of 16 patients homozygous for this mutation. Four (...) of the mutant protein and the enzymatic activity in cell lysates. In summary, I244T, the second most common mutation responsible for PH1, is a protein conformational disease that may benefit from new therapies with pharmacological chaperones or small molecules to minimize protein aggregation.

2003 Proceedings of the National Academy of Sciences of the United States of America

148. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. Full Text available with Trip Pro

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism. Mutant HPRT gene sequences from patients deficient in enzyme activity have previously been characterized by cDNA cloning or amino acid sequencing techniques. The presence of HPRT-specific mRNA in nearly all deficient subjects, as well (...) as the small size of the HPRT mRNA (1,400 bp), make the polymerase chain reaction (PCR) an alternative for the identification of mutations at this locus. In this report we use the PCR to identify previously undetermined mutations in HPRT mRNA from B lymphoblasts derived from 10 deficient individuals. Six of these variants contain single point mutations, three contain deletions, and one contains a single nucleotide insertion. Several of these mutations map near previously identified HPRT variants

1989 Journal of Clinical Investigation

149. IEM (inborn errors of metabolism)

accumulation of biochemicals, for example phenylalanine in phenylketonuria In 1902 Archibold Garrod introduced the concept of inborn errors of metabolism to describe inherited defects, often in enzymes, which interupt metabolic pathways. Metabolic disease may be caused by defects in: small molecule metabolism subcellular organelles: lysosomal disease peroxisomal disease mitochondrial disease Links: General Practice Notebook General Practice Notebook The information provided herein should not be used (...) IEM (inborn errors of metabolism) IEM (inborn errors of metabolism) - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search IEM (inborn errors of metabolism) Health depends on the well regulated flux of biochemicals through metabolic pathways. When steps in a pathways become dysregulated disease occurs because of: deficiency of essential biochemicals, for example the hypoglycaemia of some glycogen storage diseases toxic

2010 GP Notebook

150. inborn errors of metabolism

of biochemicals, for example phenylalanine in phenylketonuria In 1902 Archibold Garrod introduced the concept of inborn errors of metabolism to describe inherited defects, often in enzymes, which interupt metabolic pathways. Metabolic disease may be caused by defects in: small molecule metabolism subcellular organelles: lysosomal disease peroxisomal disease mitochondrial disease Links: General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis (...) inborn errors of metabolism inborn errors of metabolism - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search inborn errors of metabolism Health depends on the well regulated flux of biochemicals through metabolic pathways. When steps in a pathways become dysregulated disease occurs because of: deficiency of essential biochemicals, for example the hypoglycaemia of some glycogen storage diseases toxic accumulation

2010 GP Notebook

151. Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn. (Abstract)

Clinical evaluation and emergency management of inborn errors of metabolism presenting in the newborn. Close to 500 biochemically diverse genetic metabolic disorders have been identified. Despite their diversity, these diseases share a number of features. First, the majority of patients with an inborn error present clinically with one of five general phenotypes; acute encephalopathy, progressive encephalopathy, primary muscle disease, primary liver disease or primary renal disease (...) . Encephalopathy is by far the most common clinical manifestation of inborn errors of metabolism, and may be acute, intermittent, chronic (progressive), or even non-progressive. Although the five major phenotypes are a useful clinical guide, other clinical presentations of course occur, and some are virtually specific to a single disease or group of disorders. Second, almost all inborn errors are recessive in inheritance, and most of these conditions map to one of the 22 autosomes. Third, specific

2003 Southeast Asian Journal of Tropical Medicine and Public Health

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