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

Journal of inherited metabolic disease. 2019 Mar ; 42 (2) : 333-352. [epub] 20190217

J Inherit Metab Dis
ISSN 1573-2665 | 0141-8955
Source

Language English Country United States Media print-electronic

Document type Journal Article, Research Support, Non-U.S. Gov't

Persistent link https://www.medvik.cz/link/pmid30773687

PubMed 30773687
DOI 10.1002/jimd.12041
Knihovny.cz E-resources

MeSH
Child MeSH
Adult MeSH
Phenotype MeSH
Homocystinuria metabolism MeSH
Infant MeSH
Methylmalonic Acid urine MeSH
Humans MeSH
Methylenetetrahydrofolate Reductase (NADPH2) deficiency metabolism MeSH
Methylation MeSH
Adolescent MeSH
Young Adult MeSH
Infant, Newborn MeSH
Child, Preschool MeSH
Disease Progression MeSH
Cross-Sectional Studies MeSH
Psychotic Disorders metabolism MeSH
Registries MeSH
Retrospective Studies MeSH
Muscle Spasticity metabolism MeSH
Pregnancy MeSH
Age of Onset MeSH
Vitamin B 12 metabolism MeSH
Amino Acid Metabolism, Inborn Errors diagnosis therapy MeSH
Check Tag
Child MeSH
Adult MeSH
Infant MeSH
Humans MeSH
Adolescent MeSH
Young Adult MeSH
Male MeSH
Infant, Newborn MeSH
Child, Preschool MeSH
Pregnancy MeSH
Female MeSH
Publication type
Journal Article MeSH
Research Support, Non-U.S. Gov't MeSH
Geographicals
Europe MeSH
Names of Substances
Methylmalonic Acid MeSH
Methylenetetrahydrofolate Reductase (NADPH2) MeSH
Vitamin B 12 MeSH

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.

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

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