Makale detayı · 2025
Nutritional management in MNGIE disease: A case report
CLINICAL SCIENCE OF NUTRITION
- Yıl
- 2025
- ISSN
2667-6230- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
İngilizce (OpenAlex)
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.
Konular
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Clinical Nutrition and Gastroenterology
Birincil konu Glycogen Storage Diseases and Myoclonus