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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

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) from47 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 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: J Inherit Metab Dis. 2019 Mar;42(2):333-352

Editorial: Wiley

 Año de publicación: 2019

Nº de páginas: 19

Tipo de publicación: Artículo de Revista

 DOI: 10.1002/jimd.12041

ISSN: 0141-8955,1573-2665

Url de la publicación: https://doi.org/10.1007/s10545-018-0238-4

Autores/as

HUEMER, MARTINA

DIODATO, DARIA

MARTINELLI, DIEGO

OLIVIERI, GIORGIA

BLOM, HENK

GLEICH, FLORIAN

KÖLKER, STEFAN

KOŽICH, VIKTOR

MORRIS, ANDREW A.

SEIFERT, BURKHARDT

FROESE, D. SEAN

BAUMGARTNER, MATTHIAS R.

DIONISI-VICI, CARLO

THE EHOD CONSORTIUM

ALCALDE MARTIN, C.

BAETHMANN, M.

BALLHAUSEN, D.

BLASCO-ALONSO, J.