Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review

A case report of atypical ethylmalonic encephalopathy with peripheral neuropathy

“… 4 , 7 The same mutation (c.488G>A (p.R 163Q)) was described in other patients with EE who did not have mild symptoms similar to the present case. 8 Moreover, although this is a single case report, a possible correlation between the novel c.475G>C (p.R159C) ETHE1 mutation and an atypical onset with slight peripheral nerve damage cannot be excluded.…”

An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant

“…Clinically, affected patients exhibit early onset progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in their urine (di Meo et al, 2017; Tiranti et al, 2006). Since the initial description in three unrelated Italian patients in 1991 (Burlina et al, 1991), more than 80 patients have been identified (di Meo et al, 2017; Tao et al, 2020).…”