A Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria

Comments on “A Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria”

“…We disagree with the statement that “there is still little evidence of acute pseudo-obstruction symptoms in m.3243A>G-related mitochondrial disease.” 1 Pseudo-obstruction has repeatedly been reported as a manifestation of MELAS 4 and in association with the m.3243A>G variant, 5 which is the most common cause of MELAS. Pseudo-obstruction is even suspected to trigger the development of stroke-like episodes (SLEs), which is the phenotypic hallmark of MELAS.…”

“…We read with interest the article by Cai et al 1 about a 23-year-old male with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome due to the m.3243A>G variant. The patient manifested phenotypically with epilepsy, quadriparesis,wasting, generalized hypotonia, bilateral facial palsy, dysarthria, dysphagia, anemia, lactic acidosis, polyneuropathy, and abdominal pain.…”

“…The patient manifested phenotypically with epilepsy, quadriparesis,wasting, generalized hypotonia, bilateral facial palsy, dysarthria, dysphagia, anemia, lactic acidosis, polyneuropathy, and abdominal pain. 1 The patient was initially suspected as havingacute intermittent porphyria (AIP), but the 4.5-h sunlight test produced normal findings. 1 The study is attractive, but it raises concerns that should be discussed.…”

“… 1 The patient was initially suspected as havingacute intermittent porphyria (AIP), but the 4.5-h sunlight test produced normal findings. 1 The study is attractive, but it raises concerns that should be discussed.…”

“…According to Fig. 1, 1 the patient presented with bilateral ptosis and hypertelorism. Ptosis and hypertelorism have not been reported in AIP, whereas facial dysmorphism, including hypertelorism, is a frequent phenotypic feature of MELAS.…”