#PPA2
Hayley Nehoff, Ian Crozier, Hilary Vernon, Christine James, Ana I Fernández-Ávila, Michael Bowes, Esther Gomez-Gonzalez, Colin Phoon, Kristy DiLoreto, Martin E Matsumura, Désirée Y van Haaften-Visser, Cameron Seaman, Matthew R Edwards, Deborah J Morris-Rosendahl, Kathleen Simonetti, et al.
Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management
CONCLUSIONS: PPA2 deficiency has a high mortality rate following exposure to common childhood viruses in children around and under the age of 3 and in teenagers exposed to ethanol. We have presented current therapeutic approaches gathered from a worldwide survey of clinicians treating their patients, possible pathogenic mechanisms and inheritance peculiarities of the condition and provide a comprehensive review of the current recommendations surrounding patients' clinical management.
www.ahajournals.org
October 19, 2026 at 4:00 PM
Yesterday I met the wonderful Danielle, who has also lost her beautiful son and daughter to ppa2 deficiency. She was the first parent who reached out to us after diagnosis and will always be a very special friend. And she has roos across from her back yard! ❤️ #grief #childloss
February 25, 2026 at 4:12 AM
2 years ago, I had one of the 2 worst calls of my life. We got the diagnosis of you inheriting #ppa2 deficiency, the mitochondrial disease that stole Alexander.I'd spent the day watching your vibrancy, convincing myself you didn't have it. I'll forever share your beautiful life. X
November 23, 2025 at 10:58 PM
....who had the exact same reaction as her biggest sister in Australia 😅😅❤️❤️ to anybody newly bereaved: you will feel better than now. You will find a new normal. You will dig deeper. X #grief #childloss #ppa2
November 24, 2024 at 4:19 PM
We were so bewildered the next day after her diagnosis.I think I spent the whole weekend crying.Poor F developed an anxiety related issue,needing a wee every 10 minutes.We knew we needed to pull it together for him&it stopped.But it was the start of another new normal for us. #grief #childloss #ppa2
November 24, 2024 at 4:17 PM
A year ago today, we got the worst call. We were told you'd also inherited both copies of the faulty ppa2 gene. I'd spent the day taking videos like this, convincing myself you were far too happy and energetic for that. I'm by the sea for you Isabelle, but I wish I was with you.
November 23, 2024 at 9:18 AM
Gosh it is so nice to feel like I am back in old Twitter! Hi everyone. I tweet about research in policing, fraud, sex work, digital-sexual exploitation. But also, personally and professionally, SUDC, child loss and genetic conditions. PPA2 deficiency took my beautiful Alexander & Isabelle, in my ❤️.
November 16, 2024 at 11:02 AM
Mum 'broken' as girl, 2, dies from same rare disorder as brother
Mum 'broken' as girl, 2, dies from same rare disorder as brother
Isabelle Cooper's family thank supporters of their campaign for awareness of PPA2 deficiency.
www.bbc.com
September 23, 2024 at 6:29 AM
George (3,5) heeft ziekte die wereldwijd slechts dertig mensen kregen: ‘Verkoudheid al levensgevaarlijk’

Waar andere ouders zorgeloos hun kind een snoepje geven, controleren Zinzi (33) en Menno (28) van Ee elk etiket drie keer. Hun zoontje George (3,5) heeft PPA2-deficiëntie, een zeldzame...
George (3,5) heeft ziekte die wereldwijd slechts dertig mensen kregen: ‘Verkoudheid al levensgevaarlijk’
Waar andere ouders zorgeloos hun kind een snoepje geven, controleren Zinzi (33) en Menno (28) van Ee elk etiket drie keer. Hun zoontje George (3,5) heeft PPA2-deficiëntie, een zeldzame stofwisselingsz...
www.ad.nl
July 18, 2025 at 1:37 PM
George (3) leeft met levensbedreigende stofwisselingsziekte, iets simpels als snoepje kan hem fataal zijn

Waar andere ouders zorgeloos hun kind een snoepje geven, controleren Zinzi (33) en Menno (28) van Ee elk etiket drie keer. Hun zoontje George (3,5) heeft PPA2-deficiëntie, een zeldzame...
George (3) leeft met levensbedreigende stofwisselingsziekte, iets simpels als snoepje kan hem fataal zijn
Waar andere ouders zorgeloos hun kind een snoepje geven, controleren Zinzi (33) en Menno (28) van Ee elk etiket drie keer. Hun zoontje George (3,5) heeft PPA2-deficiëntie, een zeldzame stofwisselingsz...
www.ad.nl
July 18, 2025 at 12:46 PM
PPA2 deficiency is a rare mitochondrial disorder caused by biallelic PPA2 gene mutations. It leads to impaired energy production and increases the risk of sudden cardiac death.

May 2 is #PPA2 Day. Learn more: buff.ly/sGrBiT1

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
May 2, 2025 at 2:03 PM
Thank you Danielle for your fight; your heartache will bring change.
www.smh.com.au/national/nsw...

🙏 sign the petition to change the coronial process - to include genetic testing in the event of an unexplained death of an infant or young person.
surl.li/qeisra

#raredisease #PPA2 #infantloss
A coroner couldn’t tell Danielle how her son died. Then she lost her daughter
After losing her two babies, Danielle Green wants genetic testing introduced in the post-mortem investigations of young people.
www.smh.com.au
May 18, 2025 at 5:54 AM
RRIDs were included in this The EMBO Journal paper. Thanks for making your methods matter! #STMpublishing #OpenScience #accelerateopenscience
SIRT5-mediated desuccinylation of PPA2 enhances HIF-1alpha-dependent adaptation to hypoxic stress and colorectal cancer metastasis
doi.org
May 22, 2025 at 7:00 AM
SIRT5-mediated desuccinylation of PPA2 enhances HIF-1alpha-dependent adaptation to hypoxic stress and colorectal cancer metastasis
www.embopress.org/doi/full/10....
March 31, 2025 at 10:51 AM
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