The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

Colonetti, Karina; Roesch, Luiz Fernando Würdig; Schwartz, Ida Vanessa Döederlein

doi:10.1590/1678-4685-gmb-2017-0235

Cited by 16 publications

(12 citation statements)

References 149 publications

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“…Other diseases have more subtle presentations, such as a characteristic odor which is not commonly detected [56,57]. In general, IEMs can be pleiotropic (affecting more than one system or organ) or have a localized effect [58]. IEM diseases are responsible for a significant portion of childhood disability and deaths [43].…”

Section: Clinical Presentation and Outcomesmentioning

confidence: 99%

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

2019

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Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies, causing altered levels of compounds associated with these pathways. While IEMs may present with multiple overlapping symptoms and metabolites, early and accurate diagnosis of IEMs is critical for the long-term health of affected subjects. The prevalence of IEMs differs between countries, likely because different IEM classifications and IEM screening methods are used. Currently, newborn screening programs exclusively use targeted metabolic assays that focus on limited panels of compounds for selected IEM diseases. Such targeted approaches face the problem of false negative and false positive diagnoses that could be overcome if metabolic screening adopted analyses of a broader range of analytes. Hence, we here review the prospects of using untargeted metabolomics for IEM screening. Untargeted metabolomics and lipidomics do not rely on predefined target lists and can detect as many metabolites as possible in a sample, allowing to screen for many metabolic pathways simultaneously. Examples are given for nontargeted analyses of IEMs, and prospects and limitations of different metabolomics methods are discussed. We conclude that dedicated studies are needed to compare accuracy and robustness of targeted and untargeted methods with respect to widening the scope of IEM diagnostics.

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Section: Clinical Presentation and Outcomesmentioning

confidence: 99%

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

2019

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“…It is possible that CGMP-AA also influences its composition. Theoretically, a diet poor or rich in certain nutrients may trigger an intestinal dysbiosis with systemic repercussions, such as obesity, diabetes, cancer, among others [28]. Studies sought to identify the effects of PKU diet on the microbiota are scarce, especially with CGMP-AA [26,29].…”

Section: Discussionmentioning

confidence: 99%

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

Pena

Pinto

Almeida

et al. 2021

Orphanet J Rare Dis

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Background In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15–43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters. Results CGMP-AA, providing 66% of protein equivalent intake from protein substitute, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p = 0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p = 0.027). Conclusions Biochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.

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“…It is possible that CGMP-AA also in uences its composition. Theoretically, a diet poor or rich in certain nutrients may trigger an intestinal dysbiosis with systemic repercussions, such as obesity, diabetes, cancer, among others [28]. Studies sought to identify the effects of PKU diet on the microbiota are scarce, especially with CGMP-AA [26,29].…”

Section: Discussionmentioning

confidence: 99%

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

Pena

Pinto

Almeida

et al. 2021

Preprint

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Background: In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15 to 43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters. Results: CGMP-AA, providing 66% of protein substitute intake, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p=0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p=0.027). Conclusions: Biochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.

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The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

Cited by 16 publications

References 149 publications

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

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