JIMD Podcasts

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:/...

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

Dr Manuel Schiff and Dr Clément Pontoizeau join us for the first JIMD Podcast on Maple Syrup Urine Disease, hi-lighting their recent successes treating a Bckdhb knock-out mouse model using gene therapy. Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy Clément Pontoizeau, et al https://doi.org/10.1002/jimd.12604

Professor Sverre Sandberg joins the podcast to discuss recent work looking to establish key terms and definitions in the acute porphyrias, and explains how this will ultimately help bring forward treatment and research. EPNet website: http://porphyria.eu Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network Penelope E. Ste...

Dr Silvia Radenkovic, Professor Eva Morava and Professor Kent Lai join the podcast to discuss recent insights that may enable prognostication in PGM1-CDG, and a promising gene therapy study that could address the cardiomyopathy that remains untreated by Galactose therapy. The role of PGM1 isoform 2 in PGM1-CDG: One step closer to genotype–phenotype correlation? Silvia Radenkovic, et al https://doi...

Dr Marne Hagemeijer joins the podcast to explain how mass spectrometry could simplify the approach to screening urine samples for evidence of Lysosomal Storage Disorders. Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders Marne C. Hagemeijer, et al https://doi.org/10.1002/jimd.12597

Professor Michel Polak reports success using a specialist preparation of oral glibenclamide in the management of neonatal diabetes in an extreme preterm infant subsequently found to have a KCNJ11 gene variant. Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant Alfonso Galderisi, et al https://doi.org/10.1002/jmd2.12358

Dr Irene Chang and Dr An Dang Do explain how an infant presenting with cholestasis and liver disease kept them guessing, and how the abnormal biochemical findings gave them new insights into other conditions. Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation An N. Dang Do, et al https://doi.org/10.1002/jimd.12595

Dr RaeLynn Forsyth describes a pioneering patient who contributed to the evolution and understanding or Urea Cycle Disorder treatments throughout her life. The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem RaeLynn Forsyth, et al https://doi.org/10.1002/jmd2.12361

Dr Hana Alharbi, Dr Earnest James Paul Daniel, and Dr Andrew C. Edmondson join the podcast to talk about ATP6AP1-CDG and the potential for fractionated plasma N-glycan profiling. Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association Hana Alharbi, et al https://doi.org/10.1002/jimd.12589

Dr Caoimhe Howard presents her teams' report of a young boy with MTFMT-related mitochondrial disease. Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease Caoimhe Howard, et al https://doi.org/10.1002/jmd2.12355

This podcast, and the first paper, are dedicated to the memory of Dr. Nassim Shahrzad, an accomplished scientist with a bright future who was taken from her family, friends and colleagues much too soon. May the memory of her warm smile, collegial nature and devotion to her family serve as a source of comfort and inspiration to all those who knew her. In this podcast we return to TANGO2-deficiency...

Dr Nour Elkhateeb describes his group's experience managing a patient with homocystinuria who developed paracetamol toxicity and was subsequently treated with N-acetylcysteine. Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine Nour Elkhateeb, et al https://doi.org/10.1002/jmd2.12363

Dr Sean Froese returns to the podcast alongside Professor Wyatt Yue to discuss cobalamin, crystallography and consuming raw liver. The complex machinery of human cobalamin metabolism Thomas J. McCorvie, et al https://doi.org/10.1002/jimd.12593

Merel Post discusses her group's work to describe 6 individuals with MOGS-CDG and the utility of a tetrasaccharide biomarker for confirming diagnosis and possibly for treatment monitoring in future. MOGS-CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases Merel A. Post, et al https://doi.org/10.1002/jimd.12588

Dr Patrick Forny and Dr Nikolas Boy join the podcast to discuss their recent paper that considers how guideline development feeds into research targets and how new research is integrated into guidelines. How guideline development has informed clinical research for organic acidurias (et vice versa) Patrick Forny, et al https://doi.org/10.1002/jimd.12586

Dr Ruqaiah Altassan describes the successful heart transplantation in a child with PGM1-CDG. Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG) Ruqaiah Altassan, et al https://doi.org/10.1002/jmd2.12350 You may also be interested in: AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase...

Dr Milad Khedr, Dr Nick Sireau and Professor Ranganath discuss a decade of success for the UK National Alkaptonuria Centre and how close integration with the AKU Society works to provide better care for all patients. First decade anniversary of the United Kingdom National Alkaptonuria Centre Milad Khedr, et al https://doi.org/10.1002/jmd2.12340

Dr Sean Froese and Dr Charlotte Ramon join the podcast to discuss the different hypotheses around cellular damage in MMA, and new insights obtained through cellular and computational models. Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria Charlotte Ramon, et al https://doi.org/10.1002/jimd.12575

Dr Suzanne Jackowski shares the fruits of a career looking at Co-enzyme A and the results of recent work looking at a promising molecule in a propionic acidemia mouse model. Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia Chitra Subramanian, et al https://doi.org/10.1002/jimd.12570

Dr Richard Steet discusses his group's recent work describing compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 leading to GM3 synthase deficiency. Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency Natasha Rudy, et al https://doi.org/10.1002/jmd2.12353