Single amino acid supplementation in aminoacidopathies: a systematic review

Vliet, Danique van; Derks, Terry G J; Rijn, M. van; Groot, Martijn J. de; MacDonald, Anita; Heiner‐Fokkema, M. Rebecca; Spronsen, Francjan J. van

doi:10.1186/1750-1172-9-7

Cited by 26 publications

(37 citation statements)

References 129 publications

(165 reference statements)

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“…Furthermore, we investigated correlations with phenylalanine and tyrosine concentrations as a possible cause of the observed problems, which has not been studied in such detail before. High phenylalanine and tyrosine levels may have toxic effects on the brain, as shown in disorders such as phenylketonuria and tyrosinemia type 2 [18,[21][22][23]. There is also evidence that low plasma phenylalanine concentrations adversely affect the outcomes in PKU [24] and TT1 [5,12,13].…”

Section: Discussionmentioning

confidence: 99%

Development of Risk Prediction Equations for Incident Chronic Kidney Disease

Nelson

Grams

Ballew

et al. 2019

JAMA

157

179

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Section: Discussionmentioning

confidence: 99%

Development of Risk Prediction Equations for Incident Chronic Kidney Disease

Nelson

Grams

Ballew

et al. 2019

JAMA

157

179

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“…In MMA and PA patients, supplementation with SAA can play a role in dietary treatment . In the overall group of MMA, PA patients, the L‐isoleucine:L‐leucine:L‐valine ratio was 1:2.5:3.0 and in those patients without AAM‐OAD ratio was 1:1.9:3.3, which indicates low L‐valine levels (normal L‐isoleucine:L‐leucine:L‐valine ratio is 1:2:4).…”

Section: Discussionmentioning

confidence: 99%

“…Although, when necessary, precursor‐free amino acid mixtures (AAM) (AAMs‐OAD: amino acid mixtures in OAD) can be supplemented without inducing intoxication, there has recently been some debate on their use with respect to the relative high L‐leucine content influencing other plasma BCAA levels . In some patients, single amino acids (SAA) can be supplied to fine‐tune dietary treatment, though there is no international consensus on the use of either AAMs‐OAD or SAA . In UCD patients, the purpose of dietary treatment is to reduce the nitrogen load.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Molema

Gleich

Burgard

et al. 2019

J of Inher Metab Disea

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Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. 2010 12 01). In total, 271 methylmalonic aciduria (MMA) and propionic aciduria (PA) and 361 UCD patients were included. Median natural protein prescription was consistent with the recommended daily allowance (RDA), plasma L-valine (57%), and L-isoleucine (55%) levels in MMA and PA lay below reference ranges. Plasma levels were particularly low in patients who received amino acid mixtures (AAMs-OAD) and L-isoleucine:L-leucine:L-valine (BCAA) ratio was 1.0:3.0:3.2. In UCD patients, plasma L-valine, L-isoleucine, and L-leucine levels lay below reference ranges in 18%, 30%, and 31%, respectively. In symptomatic UCD patients who received AAM-UCD, the median natural protein prescription lay below RDA, while their L-valine and L-isoleucine levels and plasma BCAA ratios were comparable to those in patients who did not receive AAM-UCD. Notably, in patients with ornithine transcarbamylase syndrome (OTC-D), carbamylphosphate synthetase 1 syndrome (CPS1-D) and hyperammonemia-hyperornithinemia-homocitrullinemia (HHH) syndrome selective L-citrulline supplementation resulted in higher plasma L-arginine levels than selective L-arginine supplementation. In conclusion, while MMA and PA patients who received AAMs-OAD had very low BCAA levels and disturbed plasma

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“…Accumulation of FAA causes the development of HCC (Jorquera and Tanguay 1997, Jorquera and Tanguay 1999). As SA can be used as a surrogate marker of toxicity in the liver, we should aim at the lowest NTBC dose associated with the lowest possible SA concentration in blood and urine (Grompe et al Grompe 2001, de Laet et al 2013, Mayorandan et al 2014). …”

Section: Introductionmentioning

confidence: 99%

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day

Kienstra

Reemst

Ginkel

et al. 2017

J of Inher Metab Disea

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IntroductionIn hereditary tyrosinemia type 1 (HT1) patients, the dose of NTBC that leads to the absence of toxic metabolites such as succinylacetone (SA) is still unknown. Therefore, the aims of this study were to investigate the variation and concentrations of 2-(2-nitro-4-trifluormethyl-benzyl)-1,3-cyclohexanedione (NTBC) during the day in relation to the detection of SA, while comparing different dosing regimens.MethodsAll patients were treated with NTBC (mean 1.08 ± 0.34 mg/kg/day) and a low phenylalanine-tyrosine diet. Thirteen patients received a single dose of NTBC and five patients twice daily. Home bloodspots were collected four times daily for three consecutive days measuring NTBC and SA concentrations. Statistical analyses were performed by using mixed model analyses and generalized linear mixed model analyses to study variation and differences in NTBC concentrations and the correlation with SA, respectively.ResultsNTBC concentrations varied significantly during the day especially if NTBC was taken at breakfast only (p = 0.026), although no significant difference in NTBC concentrations between different dosing regimens could be found (p = 0.289). Momentary NTBC concentrations were negatively correlated with SA (p < 0.001). Quantitatively detectable SA was only found in subjects with once daily administration of NTBC and associated with momentary NTBC concentrations <44.3 μmol/l.DiscussionNTBC could be less stable than previously considered, thus dosing NTBC once daily and lower concentrations may be less adequate. Further research including more data is necessary to establish the optimal dosing of NTBC.Electronic supplementary materialThe online version of this article (10.1007/s10545-017-0112-9) contains supplementary material, which is available to authorized users.

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Single amino acid supplementation in aminoacidopathies: a systematic review

Cited by 26 publications

References 129 publications

Development of Risk Prediction Equations for Incident Chronic Kidney Disease

Development of Risk Prediction Equations for Incident Chronic Kidney Disease

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day

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