Journal of Innate Metabolism - JIM

Official account of the Journal of Innate Metabolism (JIM), the peer-reviewed journal of SIMMESN. Publishing research on inherited metabolic diseases. No APCs.

[Journal of Innate Metabolism - JIM @JInnateMetab]

The goal: a consistent pathway, regardless of where a child is born. 
Source: https://t.co/0vS8iISmhg

[Journal of Innate Metabolism - JIM @JInnateMetab]

As newborn screening for lysosomal disorders expands in Italy, regional programmes offer valuable lessons.
The next challenge: ensuring consistent pathways from screening to diagnosis, follow-up & care.
#NewbornScreening #RareDiseases #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

AI may inform, but specialist oversight remains essential.

[Journal of Innate Metabolism - JIM @JInnateMetab]

Can #AI chatbots safely guide dietary choices in inherited metabolic disorders?
This study found inconsistent or partially consistent answers in 64.7% of repeated queries.
https://t.co/yvamI3eIaZ
#MetabolicDiseases #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

Mark it in your calendar:
📅 Nov 25–27 | Milan

[Journal of Innate Metabolism - JIM @JInnateMetab]

🧬 The XVI SIMMESN National Congress is coming to Milan!
From newborn screening & nutrition to metabolic emergencies, AI, omics and precision medicine, #SIMMESN2026 will explore the evolving landscape of inherited metabolic diseases.
https://t.co/foOOr4HSm4
#RareDiseases #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

Replacing the missing enzyme is only part of the challenge.

[Journal of Innate Metabolism - JIM @JInnateMetab]

After >30 years of ERT, we know that tissue delivery, cellular uptake & lysosomal targeting are key determinants of efficacy.

🔬 A recent JIM review explores what we have learned — and what comes next.
https://t.co/z0LTklppeU

#ERT #RareDiseases #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

Italian Ministry of Health, First update of the Essential Levels of Care (LEA), Official Gazette No. 227, 30 September 2026. https://t.co/Coaby1AR9M

[Journal of Innate Metabolism - JIM @JInnateMetab]

🧬 A major update for newborn screening in Italy.
The updated national LEA include 4 lysosomal disorders:
🔬 Pompe
🔬 Fabry
🔬 Gaucher
🔬 MPS I
An important step towards broader access to early diagnosis across Italy.
#NewbornScreening #RareDiseases #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

It also suggests how structured strategies may help mitigate them.

[Journal of Innate Metabolism - JIM @JInnateMetab]

Even highly standardized clinical pathways are vulnerable to cognitive bias.
A new JIM paper maps how anchoring, confirmation bias, framing & other cognitive errors can affect Expanded Newborn Screening
https://t.co/DXSnwhsIKC
#NewbornScreening #PatientSafety #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

LLMs may assist — but expert oversight remains essential.

[Journal of Innate Metabolism - JIM @JInnateMetab]

🤖 Can AI be trusted with complex clinical dietary advice?
A new JIM study benchmarked 4 free-tier LLMs in inherited metabolic disorders.
⚠️ 64.7% of responses showed poor consistency across identical prompts.
https://t.co/yvamI3eIaZ

#AI #ClinicalNutrition #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

Better screening needs better communication.

[Journal of Innate Metabolism - JIM @JInnateMetab]

👶 Newborn screening can enable diagnosis before symptoms appear. But how much does the public know about it?
Only 33% of respondents reported being aware of newborn screening.
https://t.co/MDyHLPRShq

#NewbornScreening #RareDiseases #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

#ERT transformed the treatment of lysosomal storage diseases — but its evolution is far from over.
A new #JIM review explores how better targeting, delivery and next-generation enzymes may shape its future alongside gene therapy.
https://t.co/z0LTklppeU
#RareDiseases

[Journal of Innate Metabolism - JIM @JInnateMetab]

Read why responsible research assessment must go beyond numbers.

[Journal of Innate Metabolism - JIM @JInnateMetab]

📊 Are we measuring scientific impact — or letting metrics define science?

A new JIM editorial explores the benefits and limits of Impact Factor, CiteScore & h-index.
https://t.co/BaW65Tj64A

#Bibliometrics #ResearchIntegrity #JIM

[Journal of Innate Metabolism - JIM @JInnateMetab]

Bone complications remain a major source of morbidity in #GaucherDisease.
A #JIM review highlights the complexity of skeletal involvement and the limitations of current bone turnover biomarkers, supporting an integrated monitoring approach
https://t.co/nNw69MUjXd
#RareDiseases