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A case of propionic acidemia presenting with choreoathetoid movements [Behcet Uz Cocuk Hast Derg]
Behcet Uz Cocuk Hast Derg. 2012; 2(2): 114-117 | DOI: 10.5222/buchd.2012.114  

A case of propionic acidemia presenting with choreoathetoid movements

Esra Toprak Kanık1, Hasan Ağın2, Aycan Ünalp3, Rana İşgüder2, Mehmet Küçük2, Ertan Kayserili2
1Department of Peditric Allergy, Celal Bayar Unıvecity Faculty of Medicine, Manisa
2Department Of Pediatric Intencive Care, Dr Behcet Uz Child Disease And Pediatric Surgery Training And Research Hospital, Izmir
3Department of Pediatric Neurology, Dr Behcet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Izmir

Propionic acidemia is a disorder of branch-chain aminoacid metabolism. The defect is in the propionyl-CoA carboxylase enzyme with a resultant accumulation of toxic organic acid metabolites. This disorder most commonly is characterized by episodic decompansations with dehydration, lethargy, nause and vomiting. Patients with pro- pionic acidemia usually present in the neonatal period with life-threatining ketoacido- sis, often complicated by hyperammonemia. Neurological findings and mental retar- dation could accompanied clinical manifestations.
We report a six-month-old child who had been investigated for choreoathetoid move- ments and pancytopenia in our clinic with unusual manifestations with a diagnosis of propionic acidemia.

Keywords: propionic acidemia, choreoathetosis, organic acidemia, neuroimaging


Koreoatetoik hareketler ile başvuran propiyonik asidemi olgusu

Esra Toprak Kanık1, Hasan Ağın2, Aycan Ünalp3, Rana İşgüder2, Mehmet Küçük2, Ertan Kayserili2
1Çocuk Allerji Bölümü, Celal Bayar Üniversitesi Tıp Fakültesi, Manisa
2Çocuk Yoğun Bakım Bölümü, Dr Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi, İzmir
3Çocuk Nörolojisi Bölümü, Dr Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim Ve Araştırma Hastanesi-izmir

Propionik asidemi, dallı zincirli aminoasit metabolizması hastalığıdır. Propionil-CoA karboksilaz enzimindeki genetik defekt sonucu, toksik organik asit metabolitlerinin birikimiyle sonuçlanır. Hastalık genelikle epizodik olarak seyreden bulantı-kusma, dehidratasyon, letarji ile karakterizedir. Olgular genellikle neonatal dönemde, sıklık- la da hiperamonyemi ile komplike olan yaşamı tehdit edici ketoasidozla başvurur. Nörolojik bulgular ve mental retardasyon kliniğe eşlik edebilir.
Bu makalede koreoatetoid hareketler ve pansitopeni tablosunda kliniğimizde incele- nen 6 aylık olguyu beklenenden farklı olarak başvurması ve yapılan tetkikleri sonu- cunda propionik asidemi tanısı konulması nedeniyle sunmayı uygun bulduk.

Anahtar Kelimeler: propionik asidemi, koreoatetoz, organik asidemi, nörogörüntüleme


Esra Toprak Kanık, Hasan Ağın, Aycan Ünalp, Rana İşgüder, Mehmet Küçük, Ertan Kayserili. A case of propionic acidemia presenting with choreoathetoid movements. Behcet Uz Cocuk Hast Derg. 2012; 2(2): 114-117

Corresponding Author: Aycan Ünalp, Türkiye


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