Isovaleric acidemia: Therapeutic response to supplementation with glycine, l -carnitine, or both in combination and a 10-year follow-up case study

Chinen, Yoshiaki; Nakamura, Sadao; Tamashiro, Kunihito; Sakamoto, Osamu; Tashiro, Kunio; Isobe, Takashi; Nakanishi, Koichi

doi:10.1016/j.ymgmr.2017.03.002

Cited by 21 publications

(22 citation statements)

References 20 publications

(25 reference statements)

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“…In accordance with the findings of this study, hypothyroidism was reported to be a risk factor for diabetes mellitus (32), while TSH level was associated with and increased risk of GDM (33). Isovaleric academia is an inborn error of metabolism, characterized by a deficiency of isovaleryl-CoA dehydrogenase, leading to accumulation of isovalerylcarnitine or isovaleryglycine (34). Methylmalonic aciduria is another inborn error of metabolism, characterized by a deficiency of the enzyme methylmalonyl-CoA mutase (35).…”

Section: Discussionsupporting

confidence: 86%

1H-NMR based metabolomic profiling of cord blood in gestational hypothyroidism

Zhao¹,

Ge²,

Jiao³

et al. 2020

Ann Transl Med

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Background: Gestational hypothyroidism (GHT) is a common pregnancy-related thyroid disfunction.The adverse outcomes by GHT has been increasingly recognized, leading to more public awareness of the disease. However, comprehensive understanding of the prognosis of GHT has not yet achieved.Metabolomics is a powerful tool in evaluation of disease outcomes, and cord blood represents an excellent candidate for the investigation of gestational outcomes. Methods:In the present study, we performed 1H-NMR based metabolomics on cord blood of 18 pregnant women with GHT and 18 non hypothyroidism (NHT) control. Results:The metabolomic profile of GHT was separated with the NHT control. A total of 8 metabolites with altered abundances were observed, among which Creatinine and O-Phosphocholine were elevated and the others were downregulated in GHT. Spearman rank correlation suggested that the eight differential metabolites were correlated with the GHT related thyroid hormones. Pathway analysis of the differential metabolites indicated that two metabolic pathways were significantly altered in GHT (adjusted P<0.05), including tyrosine metabolism, phenylalanine, tyrosine and tryptophan biosynthesis. Enrichment analysis of the differential metabolites against disease-associated metabolite sets suggested that GHT was associated with disease risks of non-insulin dependent diabetes mellitus, isovaleric acidemia, and methylmalonic aciduria. Conclusions:The results of this study revealed GHT associated metabolic changes in cord blood, providing insights into the metabolic intermediates between GHT and its related disease risks.

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Section: Discussionsupporting

confidence: 86%

1H-NMR based metabolomic profiling of cord blood in gestational hypothyroidism

Zhao¹,

Ge²,

Jiao³

et al. 2020

Ann Transl Med

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“…54 Accumulations of 3-hydroxyisovalerylcarnitine and isovalerylcarnitine in higher concentrations are associated with metabolic deficiency in leucine metabolism and with protein absorption from foods. [55][56][57] Lower folate concentrations in the serum are linked to abnormal functioning of the proximal small intestinal mucosa, which can reduce folate absorption. 58 Tissue damage and alterations in the host metabolism can significantly change the shortchain acylcarnitines, amino acids in the plasma, and other metabolic profiles in canines with IBD.…”

Section: Canine Gut Microbiota and Gi Diseasesmentioning

confidence: 99%

The canine gastrointestinal microbiota: early studies and research frontiers

Huang

Pan

et al. 2020

Gut Microbes

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The canine gut microbiota is a complex microbial population that is potentially related to metabolism, immunologic activity and gastrointestinal (GI) diseases. Early studies revealed that the canine gut microbiota was dynamic, and bacterial populations in the adjacent gut segments were similar, with anaerobes predominating. Metagenomics analysis revealed that nutrient contents in the diet modulated bacterial populations and metabolites in the canine gut. Further research revealed significant correlations between dietary factors and canine gut core microbiomes. Canine GI diseases are closely correlated with gut microbiota dysbiosis and metabolic disorders. Probiotic-related therapies can effectively treat canine GI diseases. Recent studies have revealed that the canine gut microbiota is similar to the human gut microbiota, and dietary factors affect both. Studying canine intestinal microorganisms enables clarifying changes in the canine intestinal bacteria under different conditions, simulating human diseases in dog models, and conducting in-depth studies of the interactions between intestinal bacteria and disease.

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“…Furthermore, they present similar clinical symptoms, such as poor feeding, poor growth, delayed development, and intellectual disorders [50,51]. Newborns with Isovaleric acidemia were treated with low Leucine diet and supplement with l-carnitine and Glycine [52,53], and neonates with 2-MBG were suggested to be treated with avoidance of fasting, protein restriction and carnitine supplementation [54]. Since preterm neonates are not affected with IVA or 2-MBG, supplement with l-carnitine, BCAAs and Glycine may be beneficial for growth and development of preterm neonates who have a low ratio of (Leucine + Isoleucine + Proline-OH) to C5.…”

Section: Performance Of the Final Newborn Metabolic Model For Identifmentioning

confidence: 99%

Investigating the Metabolic Model in Preterm Neonates by Tandem Mass Spectrometry: A Cohort Study

et al. 2020

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The changes of metabolite profiles in preterm birth have been demonstrated using newborn screening data. However, little is known about the holistic metabolic model in preterm neonates. The aim was to investigate the holistic metabolic model in preterm neonates. All metabolite values were obtained from a cohort data of routine newborn screening. A total of 261 758 newborns were recruited and randomly divided into a training subset and a testing subset. Using the training subset, 949 variates were considered to establish a logistic regression model for identifying preterm birth (<37 weeks) from term birth (≥37 weeks). Sventy-two variates (age at collection, TSH, 17α-OHP, proline, tyrosine, C16:1-OH, C18:2, and 65 ratios) entered into the final metabolic model for identifying preterm birth from term birth. Among the variates entering into the final model of PTB [Leucine+Isoleucine+Proline-OH)/Valine (OR=38.36], (C3DC+C4-OH)/C12 (OR=15.58), Valine/C5 (OR=6.32), [Leucine+isoleucine+Proline-OH)/Ornithine (OR=2.509)], and Proline/C18:1 (OR=2.465) have the top five OR values, and [Leucine+Isoleucine+Proline-OH)/C5 (OR=0.05)], [Leucine+Isoleucine+Proline-OH)/Phenylalanine (OR=0.214)], proline/valine (OR=0.230), C16/C18 (OR=0.259), and Alanine/free carnitine (OR=0.279) have the five lowest OR values. The final metabolic model had a capacity of identifying preterm infants with >80% accuracy in both the training and testing subsets. When identifying neonates ≤32 weeks from those >32 weeks, it had a robust performance with nearly 95% accuracy in both subsets. In summary, we have established an excellent metabolic model in preterm neonates. These findings could provide new insights for more efficient nutrient supplements and etiology of preterm birth.

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Isovaleric acidemia: Therapeutic response to supplementation with glycine, l -carnitine, or both in combination and a 10-year follow-up case study

Cited by 21 publications

References 20 publications

1H-NMR based metabolomic profiling of cord blood in gestational hypothyroidism

1H-NMR based metabolomic profiling of cord blood in gestational hypothyroidism

The canine gastrointestinal microbiota: early studies and research frontiers

Investigating the Metabolic Model in Preterm Neonates by Tandem Mass Spectrometry: A Cohort Study

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