James Pitt

Detecting inborn errors of metabolism by targeted metabolomics: a Victorian experience

Joy Lee, Ronda Greaves, Kai Mun Hong, Mary Eggington, Abisha Srikumar, Monish Kumar, Paula De Thomasis, James Pitt

Journal article  |  2023  |  Pathology

MOGS-CDG: Quantitative analysis of the diagnostic Glc(3)Man tetrasaccharide and clinical spectrum of six new cases

Merel AA Post, Isis de Wit, Fokje SM Zijlstra, Udo FH Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen JJ Low, Andrew AA Mallick, Katrin Ounap, James Pitt, William Reardon, Mari-Anne Vals, Saskia BB Wortmann, Hans JCT Wessels, Melissa Barenfanger, et al.

Journal article  |  2023  |  JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disor..

Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.

Sarah E Donoghue, Oliver Heath, James Pitt, Kai Mun Hong, Maria Fuller, Joel Smith

Journal article  |  2022  |  Clin Chem Lab Med

OBJECTIVES: Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria (GNE variants) and infantile sialic ac..

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

Sarah Righetti, Richard JN Allcock, Joy Yaplito-Lee, Louisa Adams, Carolyn Ellaway, Kristi J Jones, Arthavan Selvanathan, Janice Fletcher, James Pitt, André BP van Kuilenburg, Martin B Delatycki, Nigel G Laing, Edwin P Kirk

Journal article  |  2022  |  Mol Genet Metab

BACKGROUND: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevel..

Loss of mitochondrial fatty acid beta-oxidation protein short-chain Enoyl-CoA hydratase disrupts oxidative phosphorylation protein complex stability and function

Harrison Burgin, Alice J Sharpe, Shuai Nie, Mark Ziemann, Jordan J Crameri, Diana Stojanovski, James Pitt, Akira Ohtake, Kei Murayama, Matthew McKenzie

Journal article  |  2022  |  FEBS JOURNAL

Short-chain enoyl-CoA hydratase 1 (ECHS1) is involved in the second step of mitochondrial fatty acid β-oxidation (FAO), catalysing..

Pyridoxine dependent epilepsy: Diagnostic proficiency of new biomarkers

Kai M Hong, Oliver Heath, Rebecca Halligan, Alberto Francescon, Ronda Greaves, James Pitt

Journal article  |  2022  |  Pathology

Disorders in sterol metabolism: A case series

Joy Lee, Sharmila Kiss, David J Amor, Natasha J Brown, Winita Hardikar, Kai M Hong, Duncan MacGregor, Melanie Marty, Justine Marum, Gautham Pai, Jane Wallace, James Pitt

Journal article  |  2022  |  Pathology

Ethylmalonic encephalopathy masquerading as meningococcemia.

Ari Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, Amanda Springer, Dean Phelan, Melanie Marty, Rebecca Halligan, Joy Lee, James Pitt, Belinda Chong, John Christodoulou, Sebastian Lunke, Zornitza Stark, Michael Fahey

Journal article  |  2022  |  Cold Spring Harb Mol Case Stud

Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in ETHE1 ..

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

David E Godler, Ling Ling, Dinusha Gamage, Emma K Baker, Minh Bui, Michael J Field, Carolyn Rogers, Merlin G Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E Schwartz, Cindy D Skinner, Angelica M Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, et al.

Journal article  |  2022  |  JAMA NETWORK OPEN

IMPORTANCE: Newborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplication syndrome (Dup..

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, Bobby G Ng, Wasantha K Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupre, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M White, Sze Chern Lim, Lyndon Gallacher, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the ..