Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

ABSTRACT: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clinical follow-up of 13 patients with a confirmed MNGIE disease of Mediterranean origin. The mean age of symptom onset was 7 years (6 months-21 years) and the average diagnosis age was 15.4 years ±8.4. Four of 13 patients (30%) died before 30 years at the mean age of 19.7 years ±6.8. Cachexia and gastrointestinal symptoms were observed in all patients (100%). The mean body mass index standard deviation score at diagnosis was 4.8 ± 2.8. At least three subocclusive episodes were presented in patients

SUBMITTER: Kalkan Ucar S 

PROVIDER: S-EPMC9458607 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature