Dr Fanny Mochel returns to the podcast to answer the question, "What can pediatricians learn from adult inherited metabolic diseases?"

Based on a talk at the SSIEM 2023 Annual Symposium.

What can pediatricians learn from adult inherited metabolic diseases?

Fanny Mochel

https://doi.org/10.1002/jimd.12729

Dr Vykunta Raju K N, Professor of Paediatric Neurology discusses a child presenting with IUGR, microcephaly, cataracts, developmental delay, seizures, and cerebral atrophy.

L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection

Vykuntaraju K. Gowda et al

https://link.springer.com/article/10.1007/s12098-024-05181-3

Eva Morava discusses the creation of the IEMbase with Nenad Blau before the pair welcome Gabriella Horvath to discuss metabolic mimics of cerebral palsy in the first episode of the footprints series.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2021.03.008

Find all the metabolic mimics of CP at http://iembase.org/gamuts/store/docs/Metabolic_mimics_of_cerebral_palsy.pdf

Dr Maja Risager Nielsen and Dr François Feillet discuss pregnancy in PKU and two different papers looking at the outcomes in pregnancies with and without BH4 treatment.

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria

Maja Risager Nielsen, et al

https://doi.org/10.1002/jimd.12600

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries

François Feillet, et al

https://doi.org/10.1002/jimd.12724

When might acute liver failure have a metabolic cause? Dr Robert Hegarty tries to answer this question and more following his recent review article on Genetic aetiologies of acute liver failure.

Genetic aetiologies of acute liver failure

Robert Hegarty, Richard J. Thompson

https://doi.org/10.1002/jimd.12733

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