We read the letter by Vélez-Santamaría et al. (2020) describing two new cases of PCYT2 deficiency with great interest. We recently described, for the first time, a new form of complex hereditary spastic paraplegia (HSP) caused by CTP: phosphoethanolamine cytidylyltransferase deficiency (Vaz et al., 2019). CTP: phosphoethanolamine cytidylyltransferase, encoded by PCYT2, is the rate-limiting enzyme of the CDP-ethanolamine pathway and is involved in the synthesis of phosphatidylethanolamine and related ether lipid analogues. PCYT2 deficiency is now indexed in OMIM as spastic paraplegia type 82 (MIM 618770).

中文翻译：

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答复：扩大 PCYT2 相关疾病的临床和遗传谱。

我们读了 Vélez-Santamaría等人的信。（2020 年）描述了两个新的PCYT2缺乏症病例。我们最近首次描述了由 CTP 引起的一种新形式的复杂遗传性痉挛性截瘫 (HSP)：磷酸乙醇胺胞苷酰转移酶缺乏症 (Vaz et al. , 2019)。CTP：磷酸乙醇胺胞苷酰转移酶，由PCYT2编码，是 CDP-乙醇胺途径的限速酶，参与磷脂酰乙醇胺和相关醚类脂质类似物的合成。PCYT2缺乏症现在在 OMIM 中被列为痉挛性截瘫 82 型 (MIM 618770)。