Akademik Veri Yönetim Sistemi
Clinical Science of Nutrition, cilt.2025, sa.7, ss.63-67, 2025 (Hakemli Dergi)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder characterized by thymidine phosphorylase deficiency. The progressive course of MNGIE increases the importance of early diagnosis and supportive treatment approaches. The disease usually presents with gastrointestinal dysmotility, neuropathy, hearing loss, cachexia, and nutritional disorders. In this case report, we present the nutritional management and follow-up of a 16-year-old male patient with MNGIE disease. The patient presented with a loss of nearly 40% of his total body weight, a BMI of 9.4 kg/m2 and severe nutritional deficiencies. Total parenteral nutrition was initiated in the first phase of nutritional treatment and then gradually transitioned to enteral nutrition. The patient’s nutritional status was improved with peptide-based formulas and pancreatic enzyme support. During the treatment process, energy and protein requirements were nearly met, weight gain was achieved and biochemical parameters were improved.