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

Abstract

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 ac-idosis, polyneuropathy, and abdominal pain. The patient was initially suspected as having acute intermittent porphyria (AIP), but the 4.5-h sunlight test produced normal findings. The study is attractive, but it