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Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.
Purcell, Orla Coughlan, Aoife Grant, Tim McNulty, Jenny Clark, Anne Deverell, Deirdre Mayne, Philip Hughes, Joanne Monavari, Ahmad Knerr, Ina
Purcell, Orla
Coughlan, Aoife
Grant, Tim
McNulty, Jenny
Clark, Anne
Deverell, Deirdre
Mayne, Philip
Hughes, Joanne
Monavari, Ahmad
Knerr, Ina
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Date
2017-01-01
Date Submitted
Keywords
METABOLISM
Dietitian
Dietitian
Other Subjects
Homocystinuria
Subject Mesh
Planned Date
Start Date
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Principal Investigators
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OA Article
Adobe PDF, 1.4 MB
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Abstract
A 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
Language
en
Citation
ISSN
2090-0724
eISSN
ISBN
DOI
10.1155/2017/8570469
PMID
29270317