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Propionic acidemia
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==Symptoms and signs== Propionic acidemia can vary in severity.<ref>{{Cite journal |last1=Shchelochkov |first1=Oleg A. |last2=Manoli |first2=Irini |last3=Juneau |first3=Paul |last4=Sloan |first4=Jennifer L. |last5=Ferry |first5=Susan |last6=Myles |first6=Jennifer |last7=Schoenfeld |first7=Megan |last8=Pass |first8=Alexandra |last9=McCoy |first9=Samantha |last10=Van Ryzin |first10=Carol |last11=Wenger |first11=Olivia |last12=Levin |first12=Mark |last13=Zein |first13=Wadih |last14=Huryn |first14=Laryssa |last15=Snow |first15=Joseph |date=August 2021 |title=Severity modeling of propionic acidemia using clinical and laboratory biomarkers |journal=Genetics in Medicine |language=en |volume=23 |issue=8 |pages=1534–1542 |doi=10.1038/s41436-021-01173-2 |pmid=34007002 |pmc=8354856 |s2cid=234779025 |issn=1530-0366|doi-access=free }}</ref> Severe propionic acidemia lead to symptoms already seen in newborns.<ref>{{Citation |last1=Shchelochkov |first1=Oleg A. |title=Propionic Acidemia |date=1993 |url=http://www.ncbi.nlm.nih.gov/books/NBK92946/ |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=22593918 |access-date=2022-11-26 |last2=Carrillo |first2=Nuria |last3=Venditti |first3=Charles |editor2-last=Everman |editor2-first=David B. |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}</ref> Symptoms include poor feeding, [[vomiting]], [[dehydration]], [[acidosis]], low [[muscle]] tone ([[hypotonia]]), seizures, and [[lethargy]]. The effects of propionic acidemia quickly become life-threatening.{{cn|date=October 2024}} Long-term complications can include intellectual disability, autism,<ref>{{Cite journal |last=Shchelochkov |first=Oleg A. |last2=Farmer |first2=Cristan A. |last3=Chlebowski |first3=Colby |last4=Adedipe |first4=Dee |last5=Ferry |first5=Susan |last6=Manoli |first6=Irini |last7=Pass |first7=Alexandra |last8=McCoy |first8=Samantha |last9=Van Ryzin |first9=Carol |last10=Sloan |first10=Jennifer |last11=Thurm |first11=Audrey |last12=Venditti |first12=Charles P. |date=2024-01-11 |title=Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology |url=https://www.nature.com/articles/s41380-023-02385-5 |journal=Molecular Psychiatry |language=en |pages=1–8 |doi=10.1038/s41380-023-02385-5 |issn=1476-5578|doi-access=free |pmc=11176071 }}</ref> chronic kidney disease,<ref>{{Cite journal|last1=Shchelochkov|first1=Oleg A.|last2=Manoli|first2=Irini|last3=Sloan|first3=Jennifer L.|last4=Ferry|first4=Susan|last5=Pass|first5=Alexandra|last6=Van Ryzin|first6=Carol|last7=Myles|first7=Jennifer|last8=Schoenfeld|first8=Megan|last9=McGuire|first9=Peter|last10=Rosing|first10=Douglas R.|last11=Levin|first11=Mark D.|date=2019-06-28|title=Chronic kidney disease in propionic acidemia|journal=Genetics in Medicine |volume=21|issue=12|pages=2830–2835|doi=10.1038/s41436-019-0593-z|issn=1530-0366|pmid=31249402|pmc=7045176}}</ref> cardiomyopathy, and prolonged QTc interval.<ref name="Propionic Acidemia">{{Citation|last1=Shchelochkov|first1=Oleg A.|title=Propionic Acidemia|date=1993|url=http://www.ncbi.nlm.nih.gov/books/NBK92946/|work=GeneReviews®|editor-last=Adam|editor-first=Margaret P.|publisher=University of Washington, Seattle|pmid=22593918|access-date=2019-09-29|last2=Carrillo|first2=Nuria|last3=Venditti|first3=Charles|editor2-last=Ardinger|editor2-first=Holly H.|editor3-last=Pagon|editor3-first=Roberta A.|editor4-last=Wallace|editor4-first=Stephanie E.}}</ref>
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