AI Summary & Key Takeaways
AI InsightWe 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.
📌 3 Key Takeaways
Abstract
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.
Özet
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.