Akademik Veri Yönetim Sistemi
SSIEM Annual Symposium 2024, Porto, Portekiz, 3 - 06 Eylül 2024, ss.159, (Özet Bildiri)
EVALUATION OF CLINICAL AND LABORATORY FINDINGS IN PATIENTS WITH MTHFR DEFICIENCY
Özge Kamer Karalar Pekuz (Turkey)1; Pelin Teke Kısa (Turkey)1; Esra Er (Turkey)2; Sedef Sezen (Turkey)3; Sevil Dorum (Turkey)4; Zümrüt Arslan Gülten (Turkey)5; Banu Kadıoğlu Yılmaz (Turkey)6; Özlem Ünal Uzun (Turkey)7; Halil İbrahim Aydın (Turkey)8; Mustafa Kılıç (Turkey)9; Bahar Kulu (Turkey)1; Şahin Erdöl (Turkey)3; Nur Arslan (Turkey)1
1 - Division of Pediatric Metabolic Diseases, Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey; 2 - Division of Pediatric Metabolism, Dr. Behçet Uz Children's Research and Training Hospital, İzmir, Turkey; 3 - Department of Pediatrics, Division of Pediatric Metabolic Diseases, Uludağ University Faculty of Medicine, Bursa; 4 - Department of Pediatric Metabolic Diseases, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey; 5 - Division of Pediatric Metabolic Diseases, Department of Pediatrics, Şişli Hamidiye Etfal Training and Research Hospital, Istanbul; 6 - Division of Pediatric Metabolic Diseases, Department of Pediatrics, Selcuk University Faculty of Medicine Hospital, Konya; 7 - Division of Pediatric Metabolic Diseases, Department of Pediatrics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey; 8 - Division of Pediatric Metabolic Diseases, Department of Pediatrics, Başkent University Ankara Hospital, Ankara, Turkey; 9 - Ankara Etlik City Hospital, Department of Pediatrics, Division of Pediatric Metabolic Diseases, Ankara, Turkey
Background: Methylenetetrahydrofolate Reductase (MTHFR) deficiency typically presents with feeding problems, failure to thrive, hypotonia, microcephaly, seizures and encephalopathy in the neonatal period. However the late-onset disease may present with a more variable picture. This study aimed to document the clinical and laboratory findings and genetic analysis of patients with MTHFR deficiency. Materials and methods: This observational, multicenter, descriptive study retrospectively evaluated patients' medical records with MTHFR deficiency. Results: A total of 15 patients were included; the median age was 70 (min-max:2-300) months, the median age at diagnosis was 10 (min-max:1-168) months, and the male-to-female ratio was 1.5. Twelve patients were consanguineous. The median age at symptom onset was 4 (min-max:0.33-144) months, and the median age at first admission was 6 (min-max:0.33- 276) months. Initial symptoms included feeding problems, hypotonia, seizures, and neuromotor developmental delay. Nine patients had symptoms in the neonatal period, 10 had epileptic seizures, and 9 had microcephaly. All patients had high plasma total homocysteine levels (>50 mmol/L); the mean methionine levels were 8.1± 4.9 mmol/L at diagnosis. The median follow-up period was 45 months. All patients were receiving betaine therapy. Two patients had thromboembolic events, and 4 had ataxia. Nine different MTHFR variants were identified from 11 patients. Late-diagnosed and initiated treatment patients had more severe neurologic findings than early diagnosed. Conclusion: MTHFR deficiency is a clinically and genetically heterogeneous disease. The real-world data presented in this study could provide valuable insights for natural history studies related to MTHFR deficiency. In regions where homocysteine is not included in the newborn screening program, MTHFR deficiency should be considered for each newborn presenting with neurological findings; treatment should be initiated immediately.