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
Ashley Hertzog returns to the shortcast to discuss how ascertainment bias may hinder the assessment of clinical phenotype in patients with 3-Methylglutaconyl-CoA hydratase deficiency. 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis Ashley Hertzog, et al https://doi.org/10.1002/jmd2.12332
In a bumper episode, Professor Shamima Rahman helps to host Dr Rhys Thomas, Lyndsey Butterworth, Dr Amy Hunter and Russell Wheeler in a discussion around the recent Priority Setting Partnership in Primary Mitochondrial Disease. Research priorities for mitochondrial disorders: Current landscape and patient and professional views Rhys H. Thomas, et al https://doi.org/10.1002/jimd.12521
Dr Spyros Batzios describes a patient diagnosed with hyperphosphatasia with mental retardation syndrome 3 (also known as Mabry Syndrome) and reports on novel findings of CSF abnormalities and response to treatment with pyridoxine and folinic acid. Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid Martina Messina, et al https://doi.org/10.1002/jmd2.12347
Dr Nikolas Boy joins the podcast to discuss the recently published third revision of the guidelines for the diagnosis and management of Glutaric Aciduria Type 1. Dr Boy explains what has changed, what has stayed the same, and why these changes have happened. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision Nikolas Boy, et al https://doi.org/10.1002/jimd.12566
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 por...
Dr Eva Hoytema van Konijnenburg describes the case of a patient with mevalonate kinase deficiency presenting solely with neurological symptoms and without an inflammatory component. Isolated neurological presentations of mevalonate kinase deficiency Eva Hoytema van Konijnenburg, et al https://doi.org/10.1002/jmd2.12348
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
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
Dr Mary Riedy discuss an infant with infantile-onset Pompe disease and the challenges of an unusual neutropenia phenotype. Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype Mary Riedy, et al https://doi.org/10.1002/jmd2.12337
Dr Stephan Kemp returns to the podcast to discuss the recent pilot for sex-specific newborn screen for X-linked adrenoleucodystrophy in the Netherlands. The discussion includes the screening pathway, the decision to make it sex specific and a review of the pilot findings. Sex-specific newborn screening for X-linked adrenoleukodystrophy Monique Albersen, et al https://doi.org/10.1002/jimd.12571
Dr Mildrid Yeo discusses a single centre's experience of transitioning UCD children from Sodium benzoate to glycerol phenylbutyrate. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders Mildrid Yeo, et al https://doi.org/10.1002/jmd2.12274
Maria Veiga-da-Cunha, Claudia Soler-Alfonso and Sarah Grünert join the podcast to talk about Empagliflozin, a repurposed drug with impressive efficacy in GSD 1b and G6PC3 deficiency. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5 Cécile Boulanger, et al https://doi.org/10.1002/jimd.12509 Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment Eran Tallis, et al https://do...
Lydia Healy, Meabh O'Shea and Professor Ahmad Ardeshir Monavari report the Irish experience with GA1, both before and after the introduction of new born screening for the condition. Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients Lydia Healy, et al https://doi.org/10.1002/jmd2.12302
Dr Mary Kay Koenig describes the use of elamipretide in three children with different mitochondrial disorders. Her group's work provides dosing parameters for the use of elamipretide in patients <12 years of age with mitochondrial diseases caused by pathogenic variants that impair membrane phospholipid remodelling. Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases Mary Kay Koenig, et al https://doi....
In this podcast, Dr Chuck Venditti of the National Human Genome Research Institute, discusses his passion for MMA, the role of screening and the mechanisms behind different types of genomic therapy. Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia Leah E. Venturoni and Charles P. Venditti https://doi.org/10.1002/jimd.12534
Transcription (RNA) of the genes that regulate the heme-synthesis pathway in the liver is modified in a patient with acute intermittent porphyria. Transcriptomic study in explanted liver from a patient with acute intermittent porphyria Jordi To-Figueras, et al https://doi.org/10.1002/jmd2.12329
Chiel de Bode explains that orofacial abnormalities are present in all types of mucopolysaccharidosis, mucolipidosis II, and III, and therefore evaluation of orofacial health should be part of routine clinical care in these patients. Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review Chiel J. de Bode, et al https://doi.org/10.1002/jmd2.12331
Dr Daniah Albokhari and Dr Andrew Edmondson speak to the podcast about 7 new patients with ALG8-CDG and discuss how their knowledge of the condition helps formulate clinical guidance in this ultra-rare disease. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines Daniah Albokhari, et al https://doi.org/10.1002/jimd.12527
Maryam Ziadlou presents her work documenting an alternative approach to achieving good metabolic control in a case series of MSUD patients. Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series Maryam Ziadlou, and Anita MacDonald https://doi.org/10.1002/jmd2.12327
In this Shortcast, Dr Arthavan Selvanathan of the Queensland Lifespan Metabolic Medicine Service, discusses his team's work: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report Arthavan Selvanathan, et al https://doi.org/10.1002/jmd2.12318
Dr Lisette Koens joins the podcast to discuss her work that seeks to address some of the knowledge gaps that exist around eye movement disorders in late onset IMD. Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients Lisette H. Koens, et al https://doi.org/10.1002/jimd.12533
Dr Katrin Õunap presents her group's recent work, the prevalence of inherited metabolic disorders in the Estonian population over 30 years: A significant increase during the study period. The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period Elis Tiivoja, et al https://doi.org/10.1002/jmd2.12325
Dr Shanti Balasubramaniam and her team report a further case of a pathogenic, heterozygous, de novo variant in CTBP1 and discusses muscle biopsy findings in this disorder. Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant Wui-Kwan Wong, et al https://doi.org/10.1002/jmd2.12326
Expanding on their recent editorial, Shamima Rahman, Eva Morava and Tamas Kozicz discuss the doxycycline paradox and why a medication previously thought to be toxic might present an avenue for treatment in some primary mitochondrial disorders. The doxycycline paradox in primary mitochondrial diseases Tamas Kozicz, Shamima Rahman, and Eva Morava https://doi.org/10.1002/jimd.12531
Dr Sandra Sirrs returns to the podcast to discuss her work developing training competencies for adult metabolic medicine. Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians Sandra Sirrs, et al https://doi.org/10.1002/jmd2.12312 The right tool for the job—Fit for purpose training programs in adult metabolic medicine Annalisa Sechi, et al https://doi.org/10.1002/jimd.12511
Dr Kimberly Goodspeed discusses a diverse group of patients with the rare lysosomal storage disorder, aspartylglucosaminuria, a condition most commonly seen amongst Finnish patients. A cross-sectional natural history study of aspartylglucosaminuria Kimberly Goodspeed, et al https://doi.org/10.1002/jmd2.12294
Dr Thomas Cassini and Dr Carolina Montano from the NIH's Undiagnosed Diseases Program explain how they work to end the diagnostic journey for patients with undiagnosed conditions. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program Carolina Montano, et al https://doi.org/10.1002/jimd.12506
The podcast welcomes Professor Maria Estela Rubio-Gozalbo and welcomes back Professor Judy Fridovich-Keil to talk mRNA therapy, gene therapy and disease models in classic galactosemia. Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia Britt Delnoy, et al https://doi.org/10.1002/jimd.12512 Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia Jennifer M. I. Da...
