Tessa Peters and Dr Leticia Pías-Peleteiro join the podcast to discuss GLUT1 deficiency syndrome and recent insights around the potential for new biomarkers.

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
Tessa M. A. Peters, et al
https://doi.org/10.1002/jimd.12554

Novel CSF biomarkers in GLUT1 deficiency syndrome

Jenny McNulty describes the management of a successful pregnancy in a woman with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD).

Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency
Loai A. Shakerdi, et al
https://doi.org/10.1002/jmd2.12284

Shortcast: Management of pregnancy in a patient with LCHADD

Kristen Wheeden of the United Porphyrias Association joins as podcast co-host to ask David Cassiman, Pieter Vermeersch and Amy Dickey about improving diagnostics in porphyria and the outcomes of the EXPLORE B and POWER surveys exploring quality of life. 

Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias
Stefanie Lefever, et al
https://doi.org/10.1002/jimd.12545

EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms
David Cassiman, et al
https://doi.org/10.1002/jimd.12551

Quantifying the impact of symptomatic acute hepatic porphyria on well-being via patient-reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study
Amy Dickey, et al
https://doi.org/10.1002/jmd2.12343

Diagnostics, EXPLORE B and POWER in Porphyria

Professor Judy Fridovich-Keil returns to the podcast to explain gaps in research data around the S135L variant in classic galactosemia and why current data sets may not not truly reflect the international experience of galactosemia. 

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Quinton S. Katler, et al
https://doi.org/10.1002/jimd.12556

Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
Stettner et al
https://doi.org/10.1016/j.ymgme.2023.107542

Racial diversity and the S135L variant in galactosemia

Nicola Brunetti-Pierri of the Telethon Institute of Genetics and Medicine joins the podcast to discuss his recent review looking at the various gene therapy approaches in the mucopolysaccharidoses along with their strengths and limitations.

Gene therapies for mucopolysaccharidoses
Alessandro Rossi and Nicola Brunetti-Pierri
https://doi.org/10.1002/jimd.12626

Gene therapies in mucopolysaccharidoses

Dr Isabelle Adant follows up on a recent review on ATP7A with the case of a neonate presenting with occipital horn syndrome. 

Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant
Isabelle Adant, et al
https://doi.org/10.1002/jimd.12621

Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant

Dr Daphne Vassiliou joins the podcast to discuss past concerns about pregnancy in porphyria and how more data has reassured regarding safety and hi-lighted areas for increased vigilance. 

Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study
Ängla Mantel, et al
https://doi.org/10.1002/jimd.12616

Pregnancy in acute porphyria

Dr Itay Latzer, from Boston Children's Hospital, joins the podcast to discuss the development and utility of a clinical severity scoring system in the ultra-rare disease SSADHD.

Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, et al
https://doi.org/10.1002/jimd.12635

A clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency

Dr Sander Houten of the Icahn School of Medicine returns to the podcast to explain his work exploring opportunities for substrate reduction therapy in disorders of valine and isoleucine metabolism.

Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism
Sander M. Houten, et al
https://doi.org/10.1002/jimd.12642

Possible substrate reduction therapy in disorders of valine and isoleucine metabolism

Dr Emma Glamuzina of the National Metabolic Service in New Zealand, describes a neonatal presentation of CARS2- related mitochondrial disease and the diagnostic challenges this brought in a pre-exome/genome era. 

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
Jessie Poquérusse, et al
https://doi.org/10.1002/jmd2.12360

Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.

Novel CSF biomarkers in GLUT1 deficiency syndrome

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