Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease

Kenney-Jung, Daniel; Korlimarla, Aditi; Spiridigliozzi, Gail A.; Wiggins, Walter; Malinzak, Michael; Nichting, Gretchen; Jung, Seung-Hye; Sun, Angela; Wang, Raymond Y.; Al Shamsi, Aisha; Phornphutkul, Chanika; Owens, James; Provenzale, James M.; Kishnani, Priya S.

doi:10.1016/j.ymgme.2023.108119

Molecular Genetics and Metabolism

2024

DOI: 10.1016/j.ymgme.2023.108119

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Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease

Daniel Kenney-Jung,

Aditi Korlimarla,

Gail A. Spiridigliozzi

et al.

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Cited by 5 publications

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What can pediatricians learn from adult inherited metabolic diseases?

Mochel

2024

J of Inher Metab Disea

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The field of inherited metabolic diseases (IMD) has initially emerged and developed over decades in pediatric departments. Still, today, about 50% of patients with IMD are adults, and adult metabolic medicine (AMM) is getting more structured at national and international levels. There are several domains in which pediatricians can learn from AMM. First, long‐term evolution of IMD patients, especially those treated since childhood, is critical to determine nutritional and neuropsychiatric outcomes in adults so that these outcomes can be better monitored, and patient care adjusted as much as possible from childhood. Conversely, the observation of attenuated phenotypes in adults of IMD known to present with severe phenotypes in children calls for caution in the development of newborn screening programs and, more largely, in the interpretation of next‐generation sequencing data. Third, it is important for pediatricians to be familiar with adult‐onset IMD as they expand our understanding of metabolism, including in children, such as oxysterols and glycogen metabolism. Last, the identification of common molecular and cellular mechanisms in neurodevelopment and neurodegeneration opens the way to synergistic therapeutic developments that will benefit both fields of pediatric and adult medicine. Overall, these observations underline the need of strong interdisciplinarity between pediatricians and adult specialists for the diagnosis and the treatment of IMD well beyond the issues of patient transition from pediatric to adult medicine.

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What can pediatricians learn from adult inherited metabolic diseases?

Mochel

2024

J of Inher Metab Disea

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Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy

Colella

2024

Mol Diagn Ther

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Neurological glycogen storage diseases and emerging therapeutics

Colpaert,

Singh,

Donohue

et al. 2024

Neurotherapeutics

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Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease

Cited by 5 publications

References 25 publications

What can pediatricians learn from adult inherited metabolic diseases?

What can pediatricians learn from adult inherited metabolic diseases?

Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy

Neurological glycogen storage diseases and emerging therapeutics

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