Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

S. Adam; M. F. Almeida; E. Carbasius Weber; H. Champion; H. Chan; A. Daly; M. Dixon; K. Dokoupil; D. Egli; S. Evans; F. Eyskens; A. Faria; C. Ferguson; P. Hallam; M. Heddrich-Ellerbrok; J. Jacobs; C. Jankowski; R. Lachmann; R. Lilje; R. Link; S. Lowry; K. Luyten; A. MacDonald; C. Maritz; E. Martins; U. Meyer; E. Mueller; E. Murphy; L. V. Robertson; J. C. Rocha; I. Saruggia; P. Schick; J. Stafford; L. Stoelen; A. Terry; R. Thom; T. van den Hurk; M. van Rijn; A. van Teefelen-Heithoff; D. Webster; F. J. White; J. Wildgoose; H. Zweers

doi:10.1016/j.ymgme.2013.10.003

Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

S. Adam
, M. F. Almeida
, E. Carbasius Weber
, H. Champion
, H. Chan
, A. Daly
, M. Dixon
, K. Dokoupil
, D. Egli
, S. Evans
, F. Eyskens
, A. Faria
, C. Ferguson
, P. Hallam
, M. Heddrich-Ellerbrok
, J. Jacobs
, C. Jankowski
, R. Lachmann
, R. Lilje
, R. Link

S. Lowry, K. Luyten, A. MacDonald^*, C. Maritz, E. Martins, U. Meyer, E. Mueller, E. Murphy, L. V. Robertson, J. C. Rocha, I. Saruggia, P. Schick, J. Stafford, L. Stoelen, A. Terry, R. Thom, T. van den Hurk, M. van Rijn, A. van Teefelen-Heithoff, D. Webster, F. J. White, J. Wildgoose, H. Zweers

^*Corresponding author voor dit werk

Faculteit Medische Wetenschappen/UMCG

Onderzoeksoutput › Academic › peer review

26 Citaten (Scopus)

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Background: Within Europe, the management of pyridoxine (B-6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice.

Aim: A comparison of dietetic management practices of patients with B-6 non-responsive HCU in European centres.

Methods: A cross-sectional audit by questionnaire was completed by 29 inherited metabolic disorder (IMD) centres: (14 UK, 5 Germany, 3 Netherlands, 2 Switzerland, 2 Portugal, 1 France, 1 Norway, 1 Belgium).

Results: 181 patients (73% >16 years of age) with HCU were identified. The majority (66%; n= 119) were on dietary treatment (1-10 years, 90%; 11-16 years, 82%; and >16 years, 58%) with or without betaine and 34% (n = 62) were on betaine alone. The median natural protein intake (g/day) on diet only was, by age: 1-10 years, 12 g; 11-16 years, 11 g; and > 16 years, 45g. With diet and betaine, median natural protein intake (g/day) by age was: 1-10 years, 13 g; 11-16 years, 20g; and >16 years, 38g. Fifty-two percent (n = 15) of centres allocated natural protein by calculating methionine rather than a protein exchange system. A methionine-free L-amino acid supplement was prescribed for 86% of diet treated patients. Fifty-two percent of centres recommended cystine supplements for low plasma concentrations. Target treatment concentrations for homocystine/homocysteine (free/total) and frequency of biochemical monitoring varied.

Conclusion: In B-6 non-responsive HCU the prescription of dietary restriction by IMD centres declined with age, potentially associated with poor adherence in older patients. Inconsistencies in biochemical monitoring and treatment indicate the need for international consensus guidelines. (C) 2013 Elsevier Inc. All rights reserved.

Originele taal-2	English
Pagina's (van-tot)	454-459
Aantal pagina's	6
Tijdschrift	Molecular Genetics and Metabolism
Volume	110
Nummer van het tijdschrift	4
DOI's	https://doi.org/10.1016/j.ymgme.2013.10.003
Status	Published - dec-2013

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Adam, S., Almeida, M. F., Weber, E. C., Champion, H., Chan, H., Daly, A., Dixon, M., Dokoupil, K., Egli, D., Evans, S., Eyskens, F., Faria, A., Ferguson, C., Hallam, P., Heddrich-Ellerbrok, M., Jacobs, J., Jankowski, C., Lachmann, R., Lilje, R., ... Zweers, H. (2013). Dietary practices in pyridoxine non-responsive homocystinuria: A European survey. Molecular Genetics and Metabolism, 110(4), 454-459. https://doi.org/10.1016/j.ymgme.2013.10.003

@article{585988f96bcf4f96b6f986626cfc42a5,

title = "Dietary practices in pyridoxine non-responsive homocystinuria: A European survey",

abstract = "Background: Within Europe, the management of pyridoxine (B-6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice.Aim: A comparison of dietetic management practices of patients with B-6 non-responsive HCU in European centres.Methods: A cross-sectional audit by questionnaire was completed by 29 inherited metabolic disorder (IMD) centres: (14 UK, 5 Germany, 3 Netherlands, 2 Switzerland, 2 Portugal, 1 France, 1 Norway, 1 Belgium).Results: 181 patients (73\% >16 years of age) with HCU were identified. The majority (66\%; n= 119) were on dietary treatment (1-10 years, 90\%; 11-16 years, 82\%; and >16 years, 58\%) with or without betaine and 34\% (n = 62) were on betaine alone. The median natural protein intake (g/day) on diet only was, by age: 1-10 years, 12 g; 11-16 years, 11 g; and > 16 years, 45g. With diet and betaine, median natural protein intake (g/day) by age was: 1-10 years, 13 g; 11-16 years, 20g; and >16 years, 38g. Fifty-two percent (n = 15) of centres allocated natural protein by calculating methionine rather than a protein exchange system. A methionine-free L-amino acid supplement was prescribed for 86\% of diet treated patients. Fifty-two percent of centres recommended cystine supplements for low plasma concentrations. Target treatment concentrations for homocystine/homocysteine (free/total) and frequency of biochemical monitoring varied.Conclusion: In B-6 non-responsive HCU the prescription of dietary restriction by IMD centres declined with age, potentially associated with poor adherence in older patients. Inconsistencies in biochemical monitoring and treatment indicate the need for international consensus guidelines. (C) 2013 Elsevier Inc. All rights reserved.",

keywords = "Homocystinuria, Betaine, Homocysteine, Methionine, Protein restricted diet, BETA-SYNTHASE DEFICIENCY, CLASSICAL HOMOCYSTINURIA, NATURAL-HISTORY, HOMOCYSTEINE, EXPERIENCE, THERAPY, SUPPLEMENTATION, POPULATION, PREVALENCE, DIAGNOSIS",

author = "S. Adam and Almeida, \{M. F.\} and Weber, \{E. Carbasius\} and H. Champion and H. Chan and A. Daly and M. Dixon and K. Dokoupil and D. Egli and S. Evans and F. Eyskens and A. Faria and C. Ferguson and P. Hallam and M. Heddrich-Ellerbrok and J. Jacobs and C. Jankowski and R. Lachmann and R. Lilje and R. Link and S. Lowry and K. Luyten and A. MacDonald and C. Maritz and E. Martins and U. Meyer and E. Mueller and E. Murphy and Robertson, \{L. V.\} and Rocha, \{J. C.\} and I. Saruggia and P. Schick and J. Stafford and L. Stoelen and A. Terry and R. Thom and \{van den Hurk\}, T. and \{van Rijn\}, M. and \{van Teefelen-Heithoff\}, A. and D. Webster and White, \{F. J.\} and J. Wildgoose and H. Zweers",

year = "2013",

month = dec,

doi = "10.1016/j.ymgme.2013.10.003",

language = "English",

volume = "110",

pages = "454--459",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "ACADEMIC PRESS INC ELSEVIER SCIENCE",

number = "4",

}

Adam, S, Almeida, MF, Weber, EC, Champion, H, Chan, H, Daly, A, Dixon, M, Dokoupil, K, Egli, D, Evans, S, Eyskens, F, Faria, A, Ferguson, C, Hallam, P, Heddrich-Ellerbrok, M, Jacobs, J, Jankowski, C, Lachmann, R, Lilje, R, Link, R, Lowry, S, Luyten, K, MacDonald, A, Maritz, C, Martins, E, Meyer, U, Mueller, E, Murphy, E, Robertson, LV, Rocha, JC, Saruggia, I, Schick, P, Stafford, J, Stoelen, L, Terry, A, Thom, R, van den Hurk, T, van Rijn, M, van Teefelen-Heithoff, A, Webster, D, White, FJ, Wildgoose, J & Zweers, H 2013, 'Dietary practices in pyridoxine non-responsive homocystinuria: A European survey', Molecular Genetics and Metabolism, vol. 110, nr. 4, blz. 454-459. https://doi.org/10.1016/j.ymgme.2013.10.003

TY - JOUR

T1 - Dietary practices in pyridoxine non-responsive homocystinuria

T2 - A European survey

AU - Adam, S.

AU - Almeida, M. F.

AU - Weber, E. Carbasius

AU - Champion, H.

AU - Chan, H.

AU - Daly, A.

AU - Dixon, M.

AU - Dokoupil, K.

AU - Egli, D.

AU - Evans, S.

AU - Eyskens, F.

AU - Faria, A.

AU - Ferguson, C.

AU - Hallam, P.

AU - Heddrich-Ellerbrok, M.

AU - Jacobs, J.

AU - Jankowski, C.

AU - Lachmann, R.

AU - Lilje, R.

AU - Link, R.

AU - Lowry, S.

AU - Luyten, K.

AU - MacDonald, A.

AU - Maritz, C.

AU - Martins, E.

AU - Meyer, U.

AU - Mueller, E.

AU - Murphy, E.

AU - Robertson, L. V.

AU - Rocha, J. C.

AU - Saruggia, I.

AU - Schick, P.

AU - Stafford, J.

AU - Stoelen, L.

AU - Terry, A.

AU - Thom, R.

AU - van den Hurk, T.

AU - van Rijn, M.

AU - van Teefelen-Heithoff, A.

AU - Webster, D.

AU - White, F. J.

AU - Wildgoose, J.

AU - Zweers, H.

PY - 2013/12

Y1 - 2013/12

N2 - Background: Within Europe, the management of pyridoxine (B-6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice.Aim: A comparison of dietetic management practices of patients with B-6 non-responsive HCU in European centres.Methods: A cross-sectional audit by questionnaire was completed by 29 inherited metabolic disorder (IMD) centres: (14 UK, 5 Germany, 3 Netherlands, 2 Switzerland, 2 Portugal, 1 France, 1 Norway, 1 Belgium).Results: 181 patients (73% >16 years of age) with HCU were identified. The majority (66%; n= 119) were on dietary treatment (1-10 years, 90%; 11-16 years, 82%; and >16 years, 58%) with or without betaine and 34% (n = 62) were on betaine alone. The median natural protein intake (g/day) on diet only was, by age: 1-10 years, 12 g; 11-16 years, 11 g; and > 16 years, 45g. With diet and betaine, median natural protein intake (g/day) by age was: 1-10 years, 13 g; 11-16 years, 20g; and >16 years, 38g. Fifty-two percent (n = 15) of centres allocated natural protein by calculating methionine rather than a protein exchange system. A methionine-free L-amino acid supplement was prescribed for 86% of diet treated patients. Fifty-two percent of centres recommended cystine supplements for low plasma concentrations. Target treatment concentrations for homocystine/homocysteine (free/total) and frequency of biochemical monitoring varied.Conclusion: In B-6 non-responsive HCU the prescription of dietary restriction by IMD centres declined with age, potentially associated with poor adherence in older patients. Inconsistencies in biochemical monitoring and treatment indicate the need for international consensus guidelines. (C) 2013 Elsevier Inc. All rights reserved.

AB - Background: Within Europe, the management of pyridoxine (B-6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice.Aim: A comparison of dietetic management practices of patients with B-6 non-responsive HCU in European centres.Methods: A cross-sectional audit by questionnaire was completed by 29 inherited metabolic disorder (IMD) centres: (14 UK, 5 Germany, 3 Netherlands, 2 Switzerland, 2 Portugal, 1 France, 1 Norway, 1 Belgium).Results: 181 patients (73% >16 years of age) with HCU were identified. The majority (66%; n= 119) were on dietary treatment (1-10 years, 90%; 11-16 years, 82%; and >16 years, 58%) with or without betaine and 34% (n = 62) were on betaine alone. The median natural protein intake (g/day) on diet only was, by age: 1-10 years, 12 g; 11-16 years, 11 g; and > 16 years, 45g. With diet and betaine, median natural protein intake (g/day) by age was: 1-10 years, 13 g; 11-16 years, 20g; and >16 years, 38g. Fifty-two percent (n = 15) of centres allocated natural protein by calculating methionine rather than a protein exchange system. A methionine-free L-amino acid supplement was prescribed for 86% of diet treated patients. Fifty-two percent of centres recommended cystine supplements for low plasma concentrations. Target treatment concentrations for homocystine/homocysteine (free/total) and frequency of biochemical monitoring varied.Conclusion: In B-6 non-responsive HCU the prescription of dietary restriction by IMD centres declined with age, potentially associated with poor adherence in older patients. Inconsistencies in biochemical monitoring and treatment indicate the need for international consensus guidelines. (C) 2013 Elsevier Inc. All rights reserved.

KW - Homocystinuria

KW - Betaine

KW - Homocysteine

KW - Methionine

KW - Protein restricted diet

KW - BETA-SYNTHASE DEFICIENCY

KW - CLASSICAL HOMOCYSTINURIA

KW - NATURAL-HISTORY

KW - HOMOCYSTEINE

KW - EXPERIENCE

KW - THERAPY

KW - SUPPLEMENTATION

KW - POPULATION

KW - PREVALENCE

KW - DIAGNOSIS

U2 - 10.1016/j.ymgme.2013.10.003

DO - 10.1016/j.ymgme.2013.10.003

M3 - Article

SN - 1096-7192

VL - 110

SP - 454

EP - 459

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -

Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

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