Research Topics
Species | P T ClaytonSummaryAffiliation: University College London Country: UK Publications
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Publications
Disorders of bile acid synthesisPeter Theodore Clayton
Biochemistry Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK
J Inherit Metab Dis 34:593-604. 2011..The disorders of peroxisome biogenesis and peroxisomal β-oxidation that affect bile acid synthesis will be covered in the review by Ferdinandusse et al...
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretionP T Clayton
London Centre for Paediatric Endocrinology and Metabolism, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, United Kingdom
J Clin Invest 108:457-65. 2001..The patient's hyperinsulinism was easily controlled with diazoxide and chlorothiazide...
Applications of mass spectrometry in the study of inborn errors of metabolismP T Clayton
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, UK
J Inherit Metab Dis 24:139-50. 2001..Mass spectrometry also has a major role in monitoring new forms of treatment for inborn errors...- Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosisP T Clayton
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London and Great Ormond Street Hospital for Children NHS Trust, London, UK
J Inherit Metab Dis 25:501-13. 2002..After a latent period, however, progressive accumulation of cholesterol and cholestanol can lead to the xanthomata, neurodegeneration, cataracts and atherosclerosis that are typical of CTX... - Clinical consequences of defects in peroxisomal beta-oxidationP T Clayton
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, U K
Biochem Soc Trans 29:298-305. 2001.... - Neonatal epileptic encephalopathyP T Clayton
Department of Metabolic Medicine, Great Ormond Street Hospital for Children, WC1N 1EH, London, UK
Lancet 361:1614. 2003 - Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometryP T Clayton
Institute of Child Health, University College London, UK
Arch Dis Child 79:109-15. 1998.... - B6-responsive disorders: a model of vitamin dependencyPeter T Clayton
Biochemistry, Endocrinology and Metabolism, Institute of Child Health, 30 Guilford St, London, WC1N 1 EH, UK
J Inherit Metab Dis 29:317-26. 2006.... - Inborn errors presenting with liver dysfunctionPeter T Clayton
Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health, University College London and Great Ormond Street Hospital for Children, London, UK
Semin Neonatol 7:49-63. 2002..Diagnosis is important because treatment can be dramatically effective, e.g. withdrawal of galactose in galactosaemia. Even when treatment is not effective it is often possible to offer prenatal diagnosis for future pregnancies... - Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technologyK Mills
Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital, University College London, 30 Guilford St, London WC1 N 1EH, United Kingdom
Clin Chem 47:2012-22. 2001..CONCLUSIONS: This study shows that proteomic techniques are a powerful and sensitive means of detecting changes in the amino acid sequence and abnormal posttranslational modifications of specific proteins in a complex biologic matrix... - Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?S Eaton
Department of Paediatric Surgery, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, U K
Biochem Soc Trans 31:1137-9. 2003..A novel link between fatty acid oxidation and insulin secretion may explain hyperinsulinism in these patients... - Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancyH A Lemonde
Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, University College London with Great Ormond Street Hospital for Children NHS Trust, London, UK
Gut 52:1494-9. 2003..Patients with genetic 5beta-reductase deficiency may respond well to treatment with chenodeoxycholic acid and cholic acid if liver disease is not too advanced... - Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosisC J Wilson
Metabolic Unit, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK
Arch Dis Child 80:459-62. 1999..Undiagnosed, it has a mortality rate of 20-25%. Neonatal screening for the disorder is now possible but it is not known whether this would alter the prognosis... - Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency statesGeorge F G Allen
Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK
J Neurochem 114:87-96. 2010..These findings suggest that maintaining adequate pyridoxal 5'-phosphate availability may be important for optimal treatment of aromatic l-amino acid decarboxylase deficiency and l-dopa-responsive conditions... - Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan Willem Taanman
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
Hum Mutat 30:248-54. 2009..The assays may facilitate the identification of those patients in whom screening for POLG mutations would be most appropriate... - The significance of elevated CSF lactateS L Chow
Metabolic Unit, Great Ormond Street Hospital for Children, London, UK
Arch Dis Child 90:1188-9. 2005..The conditions included seizures, inflammatory changes, and proven metabolic disorders. For the diagnosis of congenital lactic acidoses, CSF lactate should ideally be measured in a seizure free patient after any acute illness... - Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesisK Hyland
Department of Child Health, Institute of Child Health, London, UK
Neurology 42:1980-8. 1992..We monitored a subsequent pregnancy through biochemical analyses of a fetal liver biopsy sample and of amniotic fluid. We predicted an unaffected fetus, which was confirmed clinically and biochemically after birth... - Diagnosis of inherited disorders of liver metabolismP T Clayton
Institute of Child Health, University College London and Great Ormond Street Hospital for Children NHS Trust, London WCIN 1EH, UK
J Inherit Metab Dis 26:135-46. 2003..The differential diagnoses that should be considered for different clinical presentations are discussed... - Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemiaC J Wilson
Metabolic Unit, Great Ormond Street Hospital for Children, London, UK
J Inherit Metab Dis 23:677-83. 2000..Further studies are needed to investigate the longer-term clinical and biochemical consequences of phenylalanine supplementation... - Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathyM Kinali
Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London, W12 0HN, UK
Eur J Paediatr Neurol 8:217-9. 2004..This case report emphasizes that a borderline concentration of free carnitine does not exclude the diagnosis of primary carnitine deficiency. Concurrent measurement of carnitine in the plasma and urine is a more sensitive test... - Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiencyP T Clayton
Department of Child Health, Institute of Child Health, London, United Kingdom
J Clin Invest 85:1267-73. 1990..The results provide evidence for peroxisomal pathways for cholic acid synthesis in man via THCA, delta 24-THCA and varanic acid and show that bile acid analyses can be used to diagnose peroxisomal thiolase deficiency... - Molecular mechanisms in mitochondrial DNA depletion syndromeJ W Taanman
Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, London, UK
Hum Mol Genet 6:935-42. 1997..Transfer of patient mitochondria with residual mtDNA levels to control cells devoid of mtDNA (rho0 cells) led to restoration of mtDNA levels and, hence, suggests a nuclear involvement in the depletion... - Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresisP B Mills
Biochemistry Department, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK
Proteomics 1:778-86. 2001..Profiles of the N-linked glycans of the individual isoforms of alpha 1-antitrypsin were obtained by MALDI-TOF... - New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (vitamin E)S A Pope
Biochemistry, Endocrinology and Metabolism Unit, The Institute of Child Health, University College London, London WC1N 1EH, UK
Bioorg Med Chem 9:1337-43. 2001..1) Here we describe the synthesis of alpha-CMBHC as a standard and confirm that it is a metabolite of alpha-tocopherol... - Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidasePhilippa B Mills
Institute of Child Health, University College London with Great Ormond Street Hospital for Children, NHS Trust, London WC1N 1EH, UK
Hum Mol Genet 14:1077-86. 2005..Maintenance of optimal PLP levels in the brain may be important in many neurological disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon)... - Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills
Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK
Nat Med 12:307-9. 2006..Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis... - Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Philippa B Mills
Institute of Child Health, University College London with Great Ormond Street Hospital for Children, National Health Service Trust, London, UK
Brain 133:2148-59. 2010..These findings support the use of biochemical and DNA tests for antiquitin deficiency and a clinical trial of pyridoxine in infants and children with epilepsy across a broad range of clinical scenarios... - A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseAndrew J Duncan
Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK
Am J Hum Genet 84:558-66. 2009..Site-directed mutagenesis targeting the equivalent residue in the yeast Saccharomyces cerevisiae abolished respiratory growth... - Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD geneKhalid Hussain
London Centre for Paediatric Endocrinology and Metabolism, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, 30 Guilford Street, London WC1N 1EH, UK
J Pediatr 146:706-8. 2005..This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity... - Human Delta4-3-oxosteroid 5beta-reductase (AKR1D1) deficiency and steroid metabolismMario Palermo
Department of Endocrinology, Azienda Sanitaria Locale ASL 1, Sassari, Italy
Steroids 73:417-23. 2008..A younger brother had a normal steroid metabolome. The sibling genotypes were not available... - Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutationsNicole I Wolf
Eur J Pediatr 162:279-80. 2003.... - Neurotransmitter diseases and related conditionsPhilippe M Campeau
Department of Human Genetics, McGill University, Montreal, Canada
Mol Genet Metab 92:189-97. 2007 - Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2)Neil V Whittock
J Invest Dermatol 121:939-42. 2003 - "African medicine" and Reye's syndromeBirgit Wittenstein
Paediatric Intensive Care Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
Lancet 363:860. 2004 - Transaldolase deficiency in a two-year-old boy with cirrhosisMirjam M Wamelink
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands
Mol Genet Metab 94:255-8. 2008..The two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and was subsequently found to have cirrhosis and deafness. A comparison with other TALDO deficient patients is given...