Cifuentes Yolanda, De la Hoz Isabel, Bermúdez Martha, Arteaga Clara
Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., Colombia.
Biomedica. 2008 Mar;28(1):10-7.
Propionic acidemia is an autosomal recessive disorder as a result of a deficient activity of propionyl-CoA carboxylase. Propionyl CoA is metabolized by propionyl-CoA carboxylase to methylmalonyl CoA. Propionic acidemia is a major cause of ketotic hyperglycinemia. This disorder is characterized by episodic vomiting, dehydratation, feeding intolerante, lethargy, hypotonia, metabolic acidosis, ketosis and hyperammonemia. The patient presented herein was a full-term female newborn with encephalopathy in the first days of life. She presented hypoglycemia, metabolic acidosis with increased anion gap, ketosis, hyperammonemia, anemia, leukopenia and thrombocytopenia. The brain ultrasonography was normal. The tandem mass expectrometry done by Pediatrix was abnormal, with the acylcarnitine results consistent with an organic acidemia. The parents are consanguineus and have a history of abortus, miscarriage and neonatal death, characteristics suggestive of the presence of genetic defects.
丙酸血症是一种常染色体隐性疾病，由丙酰辅酶A羧化酶活性不足引起。丙酰辅酶A通过丙酰辅酶A羧化酶代谢为甲基丙二酸单酰辅酶A。丙酸血症是酮症性高甘氨酸血症的主要原因。该疾病的特征为发作性呕吐、脱水、喂养不耐受、嗜睡、肌张力减退、代谢性酸中毒、酮症和高氨血症。本文所介绍的患者是一名足月女婴，出生后几天出现脑病。她出现低血糖、阴离子间隙增加的代谢性酸中毒、酮症、高氨血症、贫血、白细胞减少和血小板减少。脑部超声检查正常。由Pediatrix进行的串联质谱分析结果异常，酰基肉碱结果与有机酸血症一致。父母为近亲结婚，有流产、早产和新生儿死亡史，这些特征提示存在遗传缺陷。
