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149 results for

Inborn Error of Small Molecule Metabolism

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141. metabolic disease

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 or treatment of any medical condition. A licensed (...) metabolic disease metabolic disease - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search metabolic disease 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 of biochemicals, for example phenylalanine

2010 GP Notebook

142. 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

143. 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

144. Primary hyperoxaluria type 1 in the Canary Islands: A conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase (PubMed)

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.

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

145. 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

146. 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

147. Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity

Brain Diseases Central Nervous System Diseases Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Vascular Diseases Cardiovascular Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders (...) form or who are unable to travel to the NIH Clinical Center. Patients who are currently participating in a clinical trial of small molecule or gene therapy for Fabry disease. Patients who are currently participating in a clinical trial for any condition other than Fabry disease. Patients who are judged by the Principal Investigator to be not qualified to participate. Contacts and Locations Go to Information from the National Library of Medicine To learn more about this study, you or your doctor may

2005 Clinical Trials

148. Gaucher's disease: a paradigm for interventional genetics. (PubMed)

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

149. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. (PubMed)

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

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1989 Journal of Clinical Investigation

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