This formal definition and classification of IF, will facilitate communication and cooperation among professionals in clinical practice, organization and management, and research.

No abstract

Aim To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E‐HOD) international web‐based registry. Results This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E‐HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy‐five percent of pre‐clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. Conclusion Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry‐based design.

Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.

Дане керівництво перекладено ГО «M-Gate» під редакцією ГО «Асоціації анестезіологів України». Всі права належать Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. Список скорочень: ВАІТ-відділення анестезіології та інтенсивної терапії ГКН-гостра кишкова недостатність ІМТ-індекс маси тіла КН-кишкова недостатність КШФ-кишково-шкірні фістули ПНЖК-поліненасичені жирні кислоти ПХ-парентеральне харчування СТГ-середньоланцюгові тригліцериди ХКН-хронічна кишкова недостатність ХПАПХ-хвороба печінки, асоційована з парентеральним харчуванням ШКТ-шлунково-кишковий тракт