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PubMed

Záznam pochází z PubMed

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
Zdroj

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz https://www.medvik.cz/link/pmid30773687

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

MeSH
dítě MeSH
dospělí MeSH
fenotyp MeSH
homocystinurie metabolismus MeSH
kojenec MeSH
kyselina methylmalonová moč MeSH
lidé MeSH
methylentetrahydrofolátreduktasa (NADPH2) nedostatek metabolismus MeSH
metylace MeSH
mladiství MeSH
mladý dospělý MeSH
novorozenec MeSH
předškolní dítě MeSH
progrese nemoci MeSH
průřezové studie MeSH
psychotické poruchy metabolismus MeSH
registrace MeSH
retrospektivní studie MeSH
svalová spasticita metabolismus MeSH
těhotenství MeSH
věk při počátku nemoci MeSH
vitamin B 12 metabolismus MeSH
vrozené poruchy metabolismu aminokyselin diagnóza terapie MeSH
Check Tag
dítě MeSH
dospělí MeSH
kojenec MeSH
lidé MeSH
mladiství MeSH
mladý dospělý MeSH
mužské pohlaví MeSH
novorozenec MeSH
předškolní dítě MeSH
těhotenství MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Geografické názvy
Evropa MeSH
Názvy látek
kyselina methylmalonová MeSH
methylentetrahydrofolátreduktasa (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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