Carbohydrate status in patients with phenylketonuria
Abstract Background In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in this setting. The objective...
Main Authors: | , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2018-06-01
|
Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-018-0847-x |
id |
doaj-8439bab5ceba4662af2233ded70cd93e |
---|---|
record_format |
Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
María L. Couce Paula Sánchez-Pintos Isidro Vitoria María-José De Castro Luís Aldámiz-Echevarría Patricia Correcher Ana Fernández-Marmiesse Iria Roca Alvaro Hermida Miguel Martínez-Olmos Rosaura Leis |
spellingShingle |
María L. Couce Paula Sánchez-Pintos Isidro Vitoria María-José De Castro Luís Aldámiz-Echevarría Patricia Correcher Ana Fernández-Marmiesse Iria Roca Alvaro Hermida Miguel Martínez-Olmos Rosaura Leis Carbohydrate status in patients with phenylketonuria Orphanet Journal of Rare Diseases HOMA index Insulin Nutrition Phenylalanine Tetrahydrobiopterin |
author_facet |
María L. Couce Paula Sánchez-Pintos Isidro Vitoria María-José De Castro Luís Aldámiz-Echevarría Patricia Correcher Ana Fernández-Marmiesse Iria Roca Alvaro Hermida Miguel Martínez-Olmos Rosaura Leis |
author_sort |
María L. Couce |
title |
Carbohydrate status in patients with phenylketonuria |
title_short |
Carbohydrate status in patients with phenylketonuria |
title_full |
Carbohydrate status in patients with phenylketonuria |
title_fullStr |
Carbohydrate status in patients with phenylketonuria |
title_full_unstemmed |
Carbohydrate status in patients with phenylketonuria |
title_sort |
carbohydrate status in patients with phenylketonuria |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2018-06-01 |
description |
Abstract Background In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in this setting. The objective of the present study was to analyze carbohydrate metabolism in patients with hyperphenylalaninemia. Methods We conducted a multicenter cross-sectional study to investigate biochemical markers of basal and postprandial carbohydrate metabolism in PKU patients according to age, Phe tolerance, waist circumference and body mass index (BMI), diet, tetrahydrobiopterin (BH4) supplementation, and adherence to treatment. Basal biomarkers and anthropometric parameters were also evaluated in patients with mild hyperphenylalaninemia (MHPA) and in healthy controls. Results A total of 83 patients aged 4–52 years were studied; 68.7% had PKU and 31.3% had MHPA. 68 healthy controls of similar sex and age were also evaluated Metabolic control was adequate in 71.9% of PKU patients. Fasting glucose levels (mean 80.77 ± 8.06 mg/dL) were high in just one patient, but fasting insulin levels, with a mean of 12.74 ± 8.4 mIU/L, were altered in 15 PKU patients (26.3%) and markedly higher than in patients with MPHA (p = 0.035). Fasting insulin levels and Homeostasis Model Assessment Insulin Resistance (HOMA-IR) were significantly higher than in healthy controls and correlated with body mass index, waist circumference, age, and also showed statistically significant differences according to diagnosis and Phe tolerance (p < 0.05). Patients under BH4 therapy had lower insulin levels and HOMA-IR. A higher mean carbohydrate intake from AA mixtures was observed in classic PKU patients. The caloric intake in the form of carbohydrates was also higher in PKU than MHPA patients (p = 0.038) and it was correlated with basal insulin (rho = 0.468, p = 0.006), HOMA-IR (rho = 0.423, p = 0.02), BMI (rho 0.533, p = 0.002), and waist circumference (rho 0.584, p = 0.0007). Conclusions This study shows that PKU patients are at risk of carbohydrate intolerance and insulin resistance, more evident in adults and overweight patients, probably related to their higher caloric intake in form carbohydrate content. A higher dependency of AA mixtures was demonstrated in PKU patients. |
topic |
HOMA index Insulin Nutrition Phenylalanine Tetrahydrobiopterin |
url |
http://link.springer.com/article/10.1186/s13023-018-0847-x |
work_keys_str_mv |
AT marialcouce carbohydratestatusinpatientswithphenylketonuria AT paulasanchezpintos carbohydratestatusinpatientswithphenylketonuria AT isidrovitoria carbohydratestatusinpatientswithphenylketonuria AT mariajosedecastro carbohydratestatusinpatientswithphenylketonuria AT luisaldamizechevarria carbohydratestatusinpatientswithphenylketonuria AT patriciacorrecher carbohydratestatusinpatientswithphenylketonuria AT anafernandezmarmiesse carbohydratestatusinpatientswithphenylketonuria AT iriaroca carbohydratestatusinpatientswithphenylketonuria AT alvarohermida carbohydratestatusinpatientswithphenylketonuria AT miguelmartinezolmos carbohydratestatusinpatientswithphenylketonuria AT rosauraleis carbohydratestatusinpatientswithphenylketonuria |
_version_ |
1724759751804321792 |
spelling |
doaj-8439bab5ceba4662af2233ded70cd93e2020-11-25T02:45:50ZengBMCOrphanet Journal of Rare Diseases1750-11722018-06-0113111010.1186/s13023-018-0847-xCarbohydrate status in patients with phenylketonuriaMaría L. Couce0Paula Sánchez-Pintos1Isidro Vitoria2María-José De Castro3Luís Aldámiz-Echevarría4Patricia Correcher5Ana Fernández-Marmiesse6Iria Roca7Alvaro Hermida8Miguel Martínez-Olmos9Rosaura Leis10Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)Unit of Metabolopathies, Hospital Universitario la FeUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)Unit of Metabolism, Department of Pediatrics, Hospital de Cruces. Group of Metabolism, Biocruces Health Research Institute, CIBERERUnit of Metabolopathies, Hospital Universitario la FeUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS)Unit of Gastroenterology and Nutrition, Department of Pediatrics, Hospital Clinico Universitario de Santiago, IDISAbstract Background In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in this setting. The objective of the present study was to analyze carbohydrate metabolism in patients with hyperphenylalaninemia. Methods We conducted a multicenter cross-sectional study to investigate biochemical markers of basal and postprandial carbohydrate metabolism in PKU patients according to age, Phe tolerance, waist circumference and body mass index (BMI), diet, tetrahydrobiopterin (BH4) supplementation, and adherence to treatment. Basal biomarkers and anthropometric parameters were also evaluated in patients with mild hyperphenylalaninemia (MHPA) and in healthy controls. Results A total of 83 patients aged 4–52 years were studied; 68.7% had PKU and 31.3% had MHPA. 68 healthy controls of similar sex and age were also evaluated Metabolic control was adequate in 71.9% of PKU patients. Fasting glucose levels (mean 80.77 ± 8.06 mg/dL) were high in just one patient, but fasting insulin levels, with a mean of 12.74 ± 8.4 mIU/L, were altered in 15 PKU patients (26.3%) and markedly higher than in patients with MPHA (p = 0.035). Fasting insulin levels and Homeostasis Model Assessment Insulin Resistance (HOMA-IR) were significantly higher than in healthy controls and correlated with body mass index, waist circumference, age, and also showed statistically significant differences according to diagnosis and Phe tolerance (p < 0.05). Patients under BH4 therapy had lower insulin levels and HOMA-IR. A higher mean carbohydrate intake from AA mixtures was observed in classic PKU patients. The caloric intake in the form of carbohydrates was also higher in PKU than MHPA patients (p = 0.038) and it was correlated with basal insulin (rho = 0.468, p = 0.006), HOMA-IR (rho = 0.423, p = 0.02), BMI (rho 0.533, p = 0.002), and waist circumference (rho 0.584, p = 0.0007). Conclusions This study shows that PKU patients are at risk of carbohydrate intolerance and insulin resistance, more evident in adults and overweight patients, probably related to their higher caloric intake in form carbohydrate content. A higher dependency of AA mixtures was demonstrated in PKU patients.http://link.springer.com/article/10.1186/s13023-018-0847-xHOMA indexInsulinNutritionPhenylalanineTetrahydrobiopterin |