JIMD Podcasts Journal of Inherited Metabolic Disease

Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many gaps in our understanding of this condition.

Nucleotide metabolism, leukodystrophies, and CNS pathology
Francesco Gavazzi, et al
https://doi.org/10.1002/jimd.12721

Dr Gustavo Spolador discusses the paucity of data around palliative care in Inherited Metabolic Disease and some of his own observations in a Brazilian quaternary hospital.

Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital
Gustavo Marquezani Spolador, et al
https://doi.org/10.1002/jmd2.12417

This episode brings together two popular podcast topics, pregnancy and urea cycle disorders. Dr Margreet Wagenmakers and Dr Karolina Stepien share recent insights from a literature review and international survey exploring the experiences of mothers with urea cycle disorders.

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Karolina M. Stepien, et al
https://doi.org/10.1002/jimd.12695

Mel McSweeney and Dr Mildrid Yeo briefly outline the approach to urea cycle disorder management and the Gt Ormond Street experience using glycerol phenylbutyrate as a nitrogen scavenger.

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre
Mildrid Yeo, et al
https://doi.org/10.1002/jmd2.12386

The podcast returns to the subject of gene therapy, with Julien Baruteau, Nicola Brunetti-Pierri, and Paul Gissen discussing the potential of liver directed therapies with an emphasis on Wilson disease, Crigler-Najjar syndrome and PKU.

Liver-directed gene therapy for inherited metabolic diseases
Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen
https://doi.org/10.1002/jimd.12709

Dr Maren Thiel, Chair of the German speaking self-help group for fatty oxidation disorders, presents work completed with the Freiburg metabolic team looking at psychosocial issues and coping strategies in families affected by LC-FAOD.

Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders
Maren Thiel, et al
https://doi.org/10.1002/jmd2.12402