Certified Consultant Biochemical Geneticist, NATA assessor
I am primarily responsible for providing a diagnostic service for inborn errors of metabolism covering the state of Victoria. The laboratory that I supervise provides screening tests for amino acid, organic acid, mucopolysaccharide and purine/pyrimidine disorders.
Testing is also carried out for galactosaemia and disorders of sterol metabolism as well as monitoring metabolite levels in some patients with confirmed inborn errors. Approximately one third of the samples are from patients of the Royal Children’s Hospital, where the lab is situated, with the bulk coming from other Victorian hospitals and private pathology laboratories. My laboratory works closely with clinical geneticists and scientists from Genetic Health Services Victoria and the Murdoch Children’s Research Institute.
I also supervise the laboratory aspects of the expanded newborn screening program using tandem mass spectrometry. In 2000 I introduced this new service and supervised a pilot program and staff training. This work involved the development of software and algorithms to identify abnormals and a novel means of data analysis using multiples of median (MoM) was introduced.
I began working in biochemical genetics in 1984 when I was employed to bring expertise in mass spectrometry to the laboratory. Since 1990 I have been responsible for the overall management of the laboratory. My work involves supervision of all aspects of laboratory work and providing customers with fully interpreted results and advice. A large proportion of the requesting physicians are not experts in the field of inborn errors and this requires frequent consultation and explanation of abnormal results. I also ensure that the most appropriate tests are performed for each patient’s clinical condition, not just those requested. This may require additional consultation and requests for additional specimens in cases where the initial specimen is unsuitable. I function independently in these duties and am widely consulted on questions and advice regarding test interpretation and selection. Some abnormal screening results require additional testing or follow-up and for these cases I coordinate the liaison process between laboratory and clinicians.
Mass spectrometry is a major part of the work of my laboratory and in order to provide the best service to the hospital I also exercise other skills such as organic chemistry and computer programming. I am the sole person in Victoria with the necessary experience and skills to provide this level of service.
In addition to supervising the laboratory service, I also initiate and am involved in research related to inborn errors of metabolism. One of my main interests is the improvement of diagnostic testing for inborn errors through the introduction of new techniques, in particular mass spectrometry. This work has led to the identification of new markers for inborn errors of metabolism, a better understanding of metabolite patterns in inborn errors of metabolism and the identification of the first case of HMG-CoA synthase deficiency. This has also impacted on other areas of clinical biochemistry such as my discovery of transient pyroglutamic aciduria and its association with paracetamol. My current research interests are focused on the use of electrospray and MALDI mass spectrometry to characterise metabolites, proteins, peptides and how best to apply these techniques to the diagnosis and study of inborn errors of metabolism.
Find out more about James Pitt's experience
James Pitt's highlights
James Pitt's selected work
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a D..
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hy..
Displaying the 34 most recent scholarly works by James Pitt.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
David Coman, Lisenka ELM Vissers, Lisa G Riley, Michael P Kwint, Roxanna Hauck, Janet Koster, Sinje Geuer, Sarah Hopkins, Barbra Hallinan, Larry Sweetman, Udo FH Engelke, T Andrew Burrow, John Cardinal, James McGill, Anita Inwood, Christine Gurnsey, Hans R Waterham, John Christodoulou, Ron A Wevers, James Pitt
Journal article | 2018 | The American Journal of Human Genetics
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M White, Rachel Stapleton, Dean G Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M Ryan, Colin Robertson, Eppie M Yiu
Journal article | 2018 | Seminars in Pediatric Neurology
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, Joanne Hughes, Ellen Crushell, Michael T Geraghty, Martine Tetreault, Peter O'Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R Waterham, Sacha Ferdinandusse, Ronald JA Wanders, Robert W Taylor, James J Pitt, Philip D Mayne
Journal article | 2018 | American Journal of Medical Genetics Part A
Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in t..
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grunewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo AJ Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
Journal article | 2017 | Journal of Inherited Metabolic Disease
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations
James J Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito-Lee, Stefanie Wieser, Katrin Hinderhofer, David Johnson, Johannes Zschocke
Journal article | 2015 | JOURNAL OF INHERITED METABOLIC DISEASE
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment
Tyson L Ware, John Earl, Gajja S Salomons, Eduard A Struys, Heidi L Peters, Katherine B Howell, James J Pitt, Jeremy L Freeman
Journal article | 2014 | Developmental Medicine and Child Neurology
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
Clara D van Karnebeek, William S Sly, Colin J Ross, Ramona Salvarinova, Joy Yaplito-Lee, Saikat Santra, Casper Shyr, Gabriella A Horvath, Patrice Eydoux, Anna M Lehman, Virginie Bernard, Theresa Newlove, Henry Ukpeh, Anupam Chakrapani, Mary Anne Preece, Sarah Ball, James Pitt, Hilary D Vallance, Marion Coulter-Mackie, Hien Nguyen, et al.
Journal article | 2014 | American Journal of Human Genetics
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-L-methionine as a treatment method
Michiel A van Werkhoven, John A Duley, Ivan McGown, Teresa Munce, Jeremy L Freeman, James J Pitt
Journal article | 2013 | Developmental Medicine and Child Neurology
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance
Anasufiza Habib, Zabedah Md Yunus, Nor Azimah Azize, Gaik-Siew Ch'ng, Winnie PeiTee Ong, Bee-Chin Chen, Ho-Torng Hsu, Ke-Juin Wong, James Pitt, Lock-Hock Ngu
Journal article | 2013 | EUROPEAN JOURNAL OF PEDIATRICS
Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene
Dillon W Leong, Jasper C Komen, Chelsee A Hewitt, Estelle Arnaud, Matthew McKenzie, Belinda Phipson, Melanie Bahlo, Adrienne Laskowski, Sarah A Kinkel, Gayle M Davey, William R Heath, Anne K Voss, Rene P Zahedi, James J Pitt, Roman Chrast, Albert Sickmann, Michael T Ryan, Gordon K Smyth, David R Thorburn, Hamish S Scott
Journal article | 2012 | Journal of Biological Chemistry
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy
Bi-Xia Ke, Salvatore Pepe, David R Grubb, Jasper C Komen, Adrienne Laskowski, Felicity A Rodda, Belinda M Hardman, James J Pitt, Michael T Ryan, Michael Lazarou, Jane Koleff, Michael MH Cheung, Joseph J Smolich, David R Thorburn
Journal article | 2012 | Proceedings of the National Academy of Sciences of the United States of America
Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP
Alex Veldman, Jose Angel Santamaria-Araujo, Silvio Sollazzo, James Pitt, Robert Gianello, Joy Yaplito-Lee, Flora Wong, Clive Andrew Ramsden, Jochen Reiss, Iain Cook, Jon Fairweather, Guenter Schwarz
Journal article | 2010 | Pediatrics
Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Francis Bowling, Kevin Carpenter, John Christodoulou, David Cowley, Carolyn Ellaway, Janice Fletcher, Edwin P Kirk, Barry Lewis, Jim McGill, Heidi Peters, James Pitt, Enzo Ranieri, Joy Yaplito-Lee, Avihu Boneh
Journal article | 2009 | Pediatrics
Honours, Awards and Fellowships
Fellow of the HUman Genetics Society of Australasia
Paediatrics Royal Children'S Hospital
Society for the Study of Inborn Errors of Metabolism
Honorary Treasurer, Member Of The Organising Committee
Australasian Society for Inborn Errors of Metabolism (ASIEM)
La Trobe University
Bachelor of Science (Honours)
University of Melbourne