JIMD Podcasts

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

In a 'short' Shortcast, Dr Julien Baruteau introduces his Report of two infantile-onset cases of remethylation defects and their response to treatment.

Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects

Abigail Whitehouse, et al

https://doi.org/10.1002/jmd2.12375

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

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

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

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

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

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

Professor Ranganath discusses his observations around the increased incidence of Parkinson's disease in Alkaptonuria and shares his thoughts on the possible pathophysiology.

Professor Jayesh Sheth discusses two patients diagnosed with MLD following milder presentations, both related to novel missense variants in the PSAP gene.

Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

Jayesh Sheth, et al

https://doi.org/10.1002/jmd2.12374