Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Harvard

Kožich, V, Sokolová, J, Morris, AAM, Pavlíková, M, Gleich, F, Kölker, S, Krijt, J, Dionisi-Vici, C, Baumgartner, MR, Blom, HJ, Huemer, M, E-HOD consortium & Lund, AM 2021, 'Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis', Journal of Inherited Metabolic Disease, bind 44, nr. 3, s. 677-692. https://doi.org/10.1002/jimd.12338

APA

Kožich, V., Sokolová, J., Morris, A. A. M., Pavlíková, M., Gleich, F., Kölker, S., Krijt, J., Dionisi-Vici, C., Baumgartner, M. R., Blom, H. J., Huemer, M., E-HOD consortium, & Lund, A. M. (2021). Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. Journal of Inherited Metabolic Disease, 44(3), 677-692. https://doi.org/10.1002/jimd.12338

CBE

Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M, E-HOD consortium, Lund AM. 2021. Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. Journal of Inherited Metabolic Disease. 44(3):677-692. https://doi.org/10.1002/jimd.12338

MLA

Vancouver

Author

Kožich, Viktor ; Sokolová, Jitka ; Morris, Andrew A M ; Pavlíková, Markéta ; Gleich, Florian ; Kölker, Stefan ; Krijt, Jakub ; Dionisi-Vici, Carlo ; Baumgartner, Matthias R ; Blom, Henk J ; Huemer, Martina ; E-HOD consortium ; Lund, Allan Meldgaard. / Cystathionine β-synthase deficiency in the E-HOD registry-part I : pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. I: Journal of Inherited Metabolic Disease. 2021 ; Bind 44, Nr. 3. s. 677-692.

Bibtex

@article{96fd49dbab7e4c4bbccf14ee5ae50d19,
title = "Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis",
abstract = "Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient-years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine-responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long-term complications.",
keywords = "homocystinuria, patient registry, natural history, methionine, thromboembolism, developmental delay",
author = "Viktor Ko{\v z}ich and Jitka Sokolov{\'a} and Morris, {Andrew A M} and Mark{\'e}ta Pavl{\'i}kov{\'a} and Florian Gleich and Stefan K{\"o}lker and Jakub Krijt and Carlo Dionisi-Vici and Baumgartner, {Matthias R} and Blom, {Henk J} and Martina Huemer and {E-HOD consortium} and Lund, {Allan Meldgaard}",
note = "{\textcopyright} 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.",
year = "2021",
month = may,
doi = "10.1002/jimd.12338",
language = "English",
volume = "44",
pages = "677--692",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "3",

}

RIS

TY - JOUR

T1 - Cystathionine β-synthase deficiency in the E-HOD registry-part I

T2 - pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

AU - Kožich, Viktor

AU - Sokolová, Jitka

AU - Morris, Andrew A M

AU - Pavlíková, Markéta

AU - Gleich, Florian

AU - Kölker, Stefan

AU - Krijt, Jakub

AU - Dionisi-Vici, Carlo

AU - Baumgartner, Matthias R

AU - Blom, Henk J

AU - Huemer, Martina

AU - E-HOD consortium

A2 - Lund, Allan Meldgaard

N1 - © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

PY - 2021/5

Y1 - 2021/5

N2 - Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient-years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine-responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long-term complications.

AB - Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient-years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine-responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long-term complications.

KW - homocystinuria

KW - patient registry

KW - natural history

KW - methionine

KW - thromboembolism

KW - developmental delay

UR - http://www.scopus.com/inward/record.url?scp=85102379217&partnerID=8YFLogxK

U2 - 10.1002/jimd.12338

DO - 10.1002/jimd.12338

M3 - Journal article

C2 - 33295057

VL - 44

SP - 677

EP - 692

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 3

ER -

ID: 62401460