Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.
Local subject classificationHomocystinuria
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AbstractA low methionine diet is the mainstay of treatment for pyridoxine nonresponsive homocystinuria (HCU). There are various guidelines for recommended protein intakes for HCU and clinical practice varies. Poor growth has been associated with low cystine levels. This retrospective review of 48 Irish pyridoxine nonresponsive HCU patients assessed weight, height, body mass index (BMI), protein intake, and metabolic control up to 18 years at nine set time points. Patients diagnosed through newborn screening (NBS) were compared to late diagnosed (LD) patients. At 18 years the LD group
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- Authors: Adam S, Almeida MF, Carbasius Weber E, 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, Müller 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
- Issue date: 2013 Dec
- Newborn screening for homocystinuria: Irish and world experience.
- Authors: Naughten ER, Yap S, Mayne PD
- Issue date: 1998 Apr
- Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
- Authors: Yap S, Naughten ER, Wilcken B, Wilcken DE, Boers GH
- Issue date: 2000
- [A case report of pyridoxine-responsive homocystinuria].
- Authors: Milosević-Tosić M, Borota J, Katanić D, Vlaski J
- Issue date: 1999 Nov-Dec