A case of propionic acidemia presenting with choreoathetoid movements
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Case report

A case of propionic acidemia presenting with choreoathetoid movements

J Behcet Uz Child Hosp 2012;2(2):114-117 DOI: 10.5222/buchd.2012.114
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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.

Keywords: propionic acidemia, choreoathetosis, organic acidemia, neuroimaging