JIMD Podcasts Journal of Inherited Metabolic Disease

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

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