High Glycine, Different Diagnoses

High Glycine, Different Diagnoses

From JIMD Podcasts by Journal of Inherited Metabolic Disease

June 9, 2026 · 24 min

About this episode

This episode discusses the complexities of elevated glycine levels and their implications for various diagnoses.

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

People in this episode

Host: James Nurse

Guests: Arthavan Selvanathan, Curtis Coughlin

Topics covered

  • glycine disorders
  • hyperglycinaemia
  • differential diagnosis
  • clinical practice
  • metabolic diseases

Keywords

  • glycine
  • hyperglycinaemia
  • nonketotic hyperglycinaemia
  • differential diagnosis
  • metabolic disorders
  • clinical framework
  • lipoate deficiency
  • pyridoxine-related disorders
  • valproate exposure

Mentioned in this episode

Organizations: Journal of Inherited Metabolic Disease

Books & works: The History and Nosology of the Glycine Disorders: A Framework for Clinicians

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