Department of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, Ankara, Turkey.
Department of Pediatric Hematology and Oncology, Süleyman Demirel University Medical Faculty, Isparta, Turkey.
J Pediatr Endocrinol Metab. 2020 Aug 18;33(10):1349-1352. doi: 10.1515/jpem-2020-0117.
Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis. Conclusions We report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18 months.
目的碳酸酐酶 VA（CAVA）缺乏症是一种罕见的常染色体隐性遗传性代谢缺陷病，可导致急性代谢危象，尤其是在新生儿或婴儿期。它是由编码酶 CAVA 的 CA5A 基因缺陷引起的。
病例介绍 迄今为止，文献中已有 15 例纯合致病性 CA5A 基因突变患者的报道，涉及 10 种不同的病变。CAVA 缺乏症的主要临床和生化特征包括嗜睡、高氨血症性脑病、代谢性酸中毒、乳酸升高和低血糖。迄今为止报道的大多数患者仅报告了一次代谢失代偿发作，此后一直保持稳定，没有进一步的危象。
结论 我们报告了第 16 例 CAVA 缺乏症患者，该患者通过全外显子组测序确诊，其疾病过程典型，18 个月时发育正常。
