Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis
Background: Dietary intervention is to date the mainstay treatment to prevent toxic phenylalanine (Phe) accumulation in PKU patients. Despite success preventing central nervous system damage, there is increasing evidence of possible other unfavorable outcomes affecting other systems, e.g. kidney and...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-09-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426923000447 |
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| author | Valentina Rovelli Vittoria Ercoli Alice Re Dionigi Sabrina Paci Elisabetta Salvatici Juri Zuvadelli Giuseppe Banderali |
| author_facet | Valentina Rovelli Vittoria Ercoli Alice Re Dionigi Sabrina Paci Elisabetta Salvatici Juri Zuvadelli Giuseppe Banderali |
| author_sort | Valentina Rovelli |
| collection | DOAJ |
| description | Background: Dietary intervention is to date the mainstay treatment to prevent toxic phenylalanine (Phe) accumulation in PKU patients. Despite success preventing central nervous system damage, there is increasing evidence of possible other unfavorable outcomes affecting other systems, e.g. kidney and bone; underlying mechanisms are yet to be fully elucidated. Methods: This observational, cross-sectional and descriptive study investigated 20 adult with PKU evaluating biochemical parameters, BMD measurements and extrapolating data from 3-days food records and protein substitutes (PS) and special low protein foods (SLPF) composition. Results: Blood gas venous analysis (VBG) indices were indicative of metabolic acidosis in 60% of PKU patients and VBG pH significantly correlated with BMD's Z-score (p-value = 0.022) even if its overall mean was in range (−1.29). Low bone mineral density for chronological age (Z-score < − 2.0) was found in 4 patients (20%). Indices of kidney function were not impaired. All used PS had a moderate excess of acidity, while SLPF were alkalizing and type/variety of consumed vegetables did not determine significant changes in acid-base equilibrium. Total intakes of potassium and magnesium were lower than expected. Discussion: PKU patients seem to be at risk of metabolic acidosis, directly linked to possible low bone mineralization. This may be related to the acidic composition of PS, potentially capable of acidifying the entire diet. Reported low intakes of potassium and magnesium may be relevant to these observations. Further studies are needed to better address these topics. |
| first_indexed | 2024-03-12T13:27:39Z |
| format | Article |
| id | doaj.art-9a6b60d4535844958c4f28996717c080 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-03-12T13:27:39Z |
| publishDate | 2023-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-9a6b60d4535844958c4f28996717c0802023-08-25T04:24:16ZengElsevierMolecular Genetics and Metabolism Reports2214-42692023-09-0136100998Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosisValentina Rovelli0Vittoria Ercoli1Alice Re Dionigi2Sabrina Paci3Elisabetta Salvatici4Juri Zuvadelli5Giuseppe Banderali6Corresponding author.; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, ItalyClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, ItalyClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, ItalyClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, ItalyClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, ItalyClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, ItalyClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, ItalyBackground: Dietary intervention is to date the mainstay treatment to prevent toxic phenylalanine (Phe) accumulation in PKU patients. Despite success preventing central nervous system damage, there is increasing evidence of possible other unfavorable outcomes affecting other systems, e.g. kidney and bone; underlying mechanisms are yet to be fully elucidated. Methods: This observational, cross-sectional and descriptive study investigated 20 adult with PKU evaluating biochemical parameters, BMD measurements and extrapolating data from 3-days food records and protein substitutes (PS) and special low protein foods (SLPF) composition. Results: Blood gas venous analysis (VBG) indices were indicative of metabolic acidosis in 60% of PKU patients and VBG pH significantly correlated with BMD's Z-score (p-value = 0.022) even if its overall mean was in range (−1.29). Low bone mineral density for chronological age (Z-score < − 2.0) was found in 4 patients (20%). Indices of kidney function were not impaired. All used PS had a moderate excess of acidity, while SLPF were alkalizing and type/variety of consumed vegetables did not determine significant changes in acid-base equilibrium. Total intakes of potassium and magnesium were lower than expected. Discussion: PKU patients seem to be at risk of metabolic acidosis, directly linked to possible low bone mineralization. This may be related to the acidic composition of PS, potentially capable of acidifying the entire diet. Reported low intakes of potassium and magnesium may be relevant to these observations. Further studies are needed to better address these topics.http://www.sciencedirect.com/science/article/pii/S2214426923000447PKUMetabolic acidosisPRALBone mass densityDietary interventions |
| spellingShingle | Valentina Rovelli Vittoria Ercoli Alice Re Dionigi Sabrina Paci Elisabetta Salvatici Juri Zuvadelli Giuseppe Banderali Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis Molecular Genetics and Metabolism Reports PKU Metabolic acidosis PRAL Bone mass density Dietary interventions |
| title | Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis |
| title_full | Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis |
| title_fullStr | Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis |
| title_full_unstemmed | Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis |
| title_short | Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis |
| title_sort | low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis |
| topic | PKU Metabolic acidosis PRAL Bone mass density Dietary interventions |
| url | http://www.sciencedirect.com/science/article/pii/S2214426923000447 |
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