Have you ever been asked for a metabolic opinion for a patient with a #GBS like presentation? When in the treatment cycle should one expand the differential? #guillainbarre #neurotwitter SIMD

Training for the SSIEM 2024 Annual Symposium "olympics", listening to The Journal of Inherited Metabolic Disease #podcasts while jogging and beautiful sights! 🏃🏼‍♂️🎧🌊

Are you attending #SSIEM2024? If the thought of a morning riverside walk or run on the second day of the meeting (Wednesday 4th September) puts a spring in your step, please let us know and we can make this happen. Together we can explore new horizons! #seeyouinPorto

Like Lipids? You’ll love this👇 Links below or search for JIMD podcasts wherever you like to listen. #lipids #fattyacids

Paul Gissen is a great speaker and a wonderful advocate for rare disease. Lovely to hear him chatting away with Nicola Brunetti and JulienBaruteau in this episode on Liver Directed Gene Therapy.

We received excellent news to start the week off right Our new paper has just been published Despite adequate nutrient status and intakes,early treated adult #PKU patients scored significantly⬇️in 3 subscales of cognitive wellbeing FACT‐Cog questionnaire mdpi.com/2914494

OMG😱 it’s finally here. the #SSIEM2024 book of abstracts is out now. doi.org/10.1002/jimd.1… SSIEM 2024 Annual Symposium

Increasingly we see reports of patients and/or their families disagreeing over experimental therapies and the right “to die trying to live”. This summary from Mr Rob Wheeler (Southampton Children's Hospital, University Hospital Southampton 💙) provides a tidy summary of a recent case. uhs.nhs.uk/health-profess… #mitodisease

Join the SSIEM run team. This year we're bringing you literal speedy mentors* for an 8km run or a 3km walk on Wednesday 4th September. We're asking delegates to register their interest here 👉 forms.gle/NWnm3exE3VNmhp… And we've a charity partner 👉 whydonate.com/en/donate/kast…

Porto is ready to welcome all #SSIEM2024 participants - prepare for a seamless and exciting experience! For all the details you need, visit 👉 ssiem2024.org/general-inform… #ExploringNewHorizons #Porto

SSIEM2024 starts today. Get ready for the day with our special themed podcast. Tomorrow I'll need coffee... lots of coffee. Looking forward to seeing you in Porto. #SSIEM2024 Maria Dulce Quelhas Listen here 👉 soundcloud.com/user-109006120…

Congratulations to Mattias Lissing winner of the Sir Archibald Garrod award for his (group's) publication: Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals #SSIEM2024

Presentations of inborn errors and complex and may be associated with intellectual disability. Important considerations include: #SSIEM2024

#ssiem2024 Martina Messina shows muscle bx of limited use in dx of primary mitochondrial disease in children in genomic era. However, can still be useful in some situations.

Consider genomic testing if hypoglycaemia is: - recurrent - unexplained - early onset - persistently hypoketotic - part of a more complex phenotype Diagnostic yield of 27% (up to 36%) depending on the care taken around patients subsequently referred for genomic testing.

SLC31A1 mutations regulating copper transporter as a cause of severe neurodevelopmental encephalopathy with mitochondrial dysfunction. Excellent presentation from Dr Bayde #neurometabolism Hospital Sant Joan de Déu Barcelona ES #ssiem2024

Do adults with PKU sense high Phe levels? Listen on Spotify: open.spotify.com/episode/5fT2mc… Apple: podcasts.apple.com/gb/podcast/jim… Soundcloud: soundcloud.com/user-109006120… #PKU #phenylketonuria NSPKU

The SSIEM run/walk on the morning of the second day was a great way to see the city, stretch one's legs and make new friends. Our leaders found beautiful routes that would be amenable to a mixed crowd and there were even special shirts for the earliest registrants. #ssiem2024

Exploring metabolic aetiologies of myopathy.

Closing montage from the Last Leg. Take 2 minutes to watch this. Inspiring and very emotive.