Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders

We read the letter byV élez-Santamaríaet al. (2020) describing two new cases ofPCYT2 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 (Vazet al., 2019). CTP: phosphoethanolamine cytidylyltransferase, encoded byPCYT2, 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).

Source: Brain - August 21, 2020 Category: Neurology Source Type: research