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KMID : 0918520210210010022
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Journal of the Korean Society of Inherited Metabolic Disease
2021 Volume.21 No. 1 p.22 ~ p.27
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A Case of Propionic Acidemia Presenting with Dilated Cardiomyopathy
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Son Ji-Soo
Choi Yoon-Ha
Seo Go-Hun
Kang Min-Ji
Lee Beom-Hee
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Abstract
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Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionylCoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to Dmethylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p. [Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.
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KEYWORD
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Propionic acidemia, PCCB gene, Cerebral infarction, Dilated cardiomyopathy
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