P T Clayton

Summary

Affiliation: University College London
Country: UK

Publications

  1. doi request reprint Disorders of bile acid synthesis
    Peter 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
  2. pmc 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
  3. ncbi request reprint Neonatal epileptic encephalopathy
    P T Clayton
    Department of Metabolic Medicine, Great Ormond Street Hospital for Children, WC1N 1EH, London, UK
    Lancet 361:1614. 2003
  4. ncbi request reprint Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis
    P 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
  5. ncbi request reprint Inborn errors presenting with liver dysfunction
    Peter 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
  6. ncbi request reprint B6-responsive disorders: a model of vitamin dependency
    Peter 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
  7. pmc Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
    P 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
  8. ncbi request reprint Applications of mass spectrometry in the study of inborn errors of metabolism
    P T Clayton
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, UK
    J Inherit Metab Dis 24:139-50. 2001
  9. pmc Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry
    P T Clayton
    Institute of Child Health, University College London, UK
    Arch Dis Child 79:109-15. 1998
  10. ncbi request reprint Clinical consequences of defects in peroxisomal beta-oxidation
    P 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

Collaborators

Detail Information

Publications36

  1. doi request reprint Disorders of bile acid synthesis
    Peter 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...
  2. pmc 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...
  3. ncbi request reprint Neonatal epileptic encephalopathy
    P T Clayton
    Department of Metabolic Medicine, Great Ormond Street Hospital for Children, WC1N 1EH, London, UK
    Lancet 361:1614. 2003
  4. ncbi request reprint Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis
    P 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...
  5. ncbi request reprint Inborn errors presenting with liver dysfunction
    Peter 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...
  6. ncbi request reprint B6-responsive disorders: a model of vitamin dependency
    Peter 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
    ....
  7. pmc Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
    P 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...
  8. ncbi request reprint Applications of mass spectrometry in the study of inborn errors of metabolism
    P 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...
  9. pmc Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry
    P T Clayton
    Institute of Child Health, University College London, UK
    Arch Dis Child 79:109-15. 1998
    ....
  10. ncbi request reprint Clinical consequences of defects in peroxisomal beta-oxidation
    P 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
    ....
  11. ncbi request reprint Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology
    K 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...
  12. pmc Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy
    H 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
    ..It has been proposed that some (but not all) of these have mutations in the gene encoding delta(4)-3-oxosteroid 5beta-reductase (SRD5B1; AKR1D1, OMIM 604741)...
  13. ncbi request reprint 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...
  14. pmc Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
    C 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...
  15. doi request reprint Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)
    P T Clayton
    Metabolic Medicine Unit, Great Ormond Street Hospital with UCL Institute of Child Health, Great Ormond Street, London, WC1N 3JH, UK
    J Inherit Metab Dis 32:S137-9. 2009
    ..The patient showed very little development and no vision and suffered from drug-resistant epilepsy. Abnormal coagulation resulted in thrombosis and the patient died at the age of 4 years from a pulmonary embolus...
  16. pmc The significance of elevated CSF lactate
    S 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...
  17. doi request reprint 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 states
    George 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...
  18. doi request reprint Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion
    Jan 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...
  19. ncbi request reprint Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis
    K 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...
  20. ncbi request reprint Diagnosis of inherited disorders of liver metabolism
    P 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...
  21. ncbi request reprint Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
    M 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...
  22. ncbi request reprint Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia
    C 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...
  23. pmc Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency
    P 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...
  24. ncbi request reprint Molecular mechanisms in mitochondrial DNA depletion syndrome
    J 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...
  25. ncbi request reprint 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 electrophoresis
    P 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...
  26. ncbi request reprint 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...
  27. ncbi request reprint Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    Philippa 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...
  28. ncbi request reprint Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
    Philippa 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)...
  29. pmc A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
    Andrew 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...
  30. ncbi request reprint Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene
    Khalid 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...
  31. doi request reprint Transaldolase deficiency in a two-year-old boy with cirrhosis
    Mirjam 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...
  32. doi request reprint Human Delta4-3-oxosteroid 5beta-reductase (AKR1D1) deficiency and steroid metabolism
    Mario 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...
  33. ncbi request reprint Neurotransmitter diseases and related conditions
    Philippe M Campeau
    Department of Human Genetics, McGill University, Montreal, Canada
    Mol Genet Metab 92:189-97. 2007
  34. ncbi request reprint Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations
    Nicole I Wolf
    Eur J Pediatr 162:279-80. 2003
    ....
  35. ncbi request reprint "African medicine" and Reye's syndrome
    Birgit Wittenstein
    Paediatric Intensive Care Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
    Lancet 363:860. 2004
  36. ncbi request reprint Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2)
    Neil V Whittock
    J Invest Dermatol 121:939-42. 2003