Show Notes
A raised glycine level can point to a surprisingly broad range of conditions.
In this episode, James Nurse is joined by Arthavan Selvanathan and Curtis Coughlin to discuss their review, The History and Nosology of the Glycine Disorders: A Framework for Clinicians. Together they explore why not all hyperglycinaemia is nonketotic hyperglycinaemia (NKH), how our understanding of glycine disorders has evolved, and how clinicians can navigate the differential diagnosis of elevated glycine in practice.
From classic and attenuated NKH to lipoate deficiency syndromes, pyridoxine-related disorders, and important phenocopies such as valproate exposure, this episode provides a practical framework for approaching high glycine levels.
The History and Nosology of the Glycine Disorders: A Framework for Clinicians Arthavan Selvanathan, et al https://doi.org/10.1002/jimd.70138
More from JIMD Podcasts
Dr Lívia Ferreira Sobrinho and Dr Ida Schwartz share new insights into GLUT1 deficiency syndrome from a Brazilian cohort of 40 patients. They explore its varied clinical presentations, 15 previously unreported SLC2A1 variants, and the implications for early diagnosis, ketogenic dietary therapy and genetic counselling for families.
How do you manage gestational diabetes in a condition that predisposes to hypoglycaemia? Raashda A. Sulaiman discusses three successful pregnancies in women with fructose-1,6-bisphosphatase deficiency, exploring the balance between high and low blood glucose, the risk of lactic acidosis, and the importance of coordinated care through pregnancy, delivery and beyond.
Citrin deficiency challenges familiar assumptions about urea cycle disorders, from its changing clinical presentations to its distinctive dietary and emergency management. James Nurse speaks with Johannes Häberle, Saikat Santra and Barbara Yu of the Citrin Foundation, with contributions from Jun Kido, to explore diagnosis and care across the lifespan, differences between populations, and the evidence behind current treatments.
Professor David Cassiman, Professor of Hepatology and Inherited Metabolic Diseases at KU Leuven, and Dr Martijn Brouwers, internist-endocrinologist and Head of the Division of Endocrinology and Metabolic Disease at Maastricht University Medical Center, join Rodrigo Starosta and Silvia Radenkovic to discuss recent advances in fructose metabolism.
Dr Boel Ernerdahl presents her groups observations around the make up of adult patients with neurometabolic disorders at a single centre in Sweden.