Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake
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 pyri...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Journal of Nutrition and Metabolism |
| Online Access: | http://dx.doi.org/10.1155/2017/8570469 |
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| author | Orla Purcell Aoife Coughlan Tim Grant Jenny McNulty Anne Clark Deirdre Deverell Philip Mayne Joanne Hughes Ahmad Monavari Ina Knerr Ellen Crushell |
| author_facet | Orla Purcell Aoife Coughlan Tim Grant Jenny McNulty Anne Clark Deirdre Deverell Philip Mayne Joanne Hughes Ahmad Monavari Ina Knerr Ellen Crushell |
| author_sort | Orla Purcell |
| collection | DOAJ |
| description | 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 (n=12, mean age at diagnosis 5.09 years) were heavier (estimated effect +4.97 Kg, P=0.0058) and taller (estimated effect +7.97 cm P=0.0204) than the NBS group (n=36). There was no difference in growth rate between the groups after 10 years of age. The HCU population were heavier and taller than the general population by one standard deviation with no difference in BMI. There was no association between intermittently low cystine levels and height. Three protein intake guidelines were compared; there was no difference in adult height between those who met the lowest of the guidelines (Genetic Metabolic Dietitians International) and those with a higher protein intake. |
| format | Article |
| id | doaj-art-c4371808b69244809a46dd75e1f1011d |
| institution | Kabale University |
| issn | 2090-0724 2090-0732 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Nutrition and Metabolism |
| spelling | doaj-art-c4371808b69244809a46dd75e1f1011d2025-02-03T06:13:29ZengWileyJournal of Nutrition and Metabolism2090-07242090-07322017-01-01201710.1155/2017/85704698570469Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein IntakeOrla Purcell0Aoife Coughlan1Tim Grant2Jenny McNulty3Anne Clark4Deirdre Deverell5Philip Mayne6Joanne Hughes7Ahmad Monavari8Ina Knerr9Ellen Crushell10National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, IrelandDepartment of Research, Temple Street Children’s University Hospital, Dublin, IrelandDepartment of Research, Temple Street Children’s University Hospital, Dublin, IrelandNational Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, IrelandNational Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, IrelandDepartment of Laboratory Medicine, Temple Street Children’s University Hospital, Dublin, IrelandDepartment of Laboratory Medicine, Temple Street Children’s University Hospital, Dublin, IrelandNational Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, IrelandNational Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, IrelandNational Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, IrelandNational Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, IrelandA 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 (n=12, mean age at diagnosis 5.09 years) were heavier (estimated effect +4.97 Kg, P=0.0058) and taller (estimated effect +7.97 cm P=0.0204) than the NBS group (n=36). There was no difference in growth rate between the groups after 10 years of age. The HCU population were heavier and taller than the general population by one standard deviation with no difference in BMI. There was no association between intermittently low cystine levels and height. Three protein intake guidelines were compared; there was no difference in adult height between those who met the lowest of the guidelines (Genetic Metabolic Dietitians International) and those with a higher protein intake.http://dx.doi.org/10.1155/2017/8570469 |
| spellingShingle | Orla Purcell Aoife Coughlan Tim Grant Jenny McNulty Anne Clark Deirdre Deverell Philip Mayne Joanne Hughes Ahmad Monavari Ina Knerr Ellen Crushell Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake Journal of Nutrition and Metabolism |
| title | Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake |
| title_full | Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake |
| title_fullStr | Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake |
| title_full_unstemmed | Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake |
| title_short | Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake |
| title_sort | growth patterns in the irish pyridoxine nonresponsive homocystinuria population and the influence of metabolic control and protein intake |
| url | http://dx.doi.org/10.1155/2017/8570469 |
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