Abstract:Background: Previously, we detected 19 'new' amino-acid conjugates in the urine of patients with isovaleric acidemia. There is currently a poor understanding of the relationship between the clinical symptoms and the excreted metabolites occurring in these patients, owing to insufficient metabolite characterization and quantification. Consequently, controversial treatment protocols exist, particularly pertaining to dietary protein restriction. Objective: To determine the effect of the previously identified amin… Show more
“…2 , natural protein prescription is presented by region and age. Almost half of the centres (n = 18; 47%) prescribed natural protein intakes below WHO/FAO/UNU 2007 safe levels of protein intake [27] in at least one age range. However, the use of LFAA in 12 (66%) centres improved protein intake allowing safe levels to be achieved.…”
Section: Resultsmentioning
confidence: 99%
“…However, the use of LFAA in 12 (66%) centres improved protein intake allowing safe levels to be achieved. Five of 38 centres (13%) prescribed a low protein diet (without LFAA) that did not provide safe levels of protein intake [27] in patients above 11 y (centres from France n = 2; UK, n = 2; and Italy, n = 1). Fig.…”
Section: Resultsmentioning
confidence: 99%
“…The need for LFAA has been challenged [1] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] and the use of LFAA is not advocated by the IVA-EIMD guidelines [36] . There is some suggestion that LFAA may correct amino acid imbalance or deficiency [27] , [30] , [38] , [39] but the effectiveness of this is unknown and remains unstudied with severe natural protein restriction appearing unnecessary. There is limited published IVA patient outcome data that describes dietary management in depth.…”
Section: Discussionmentioning
confidence: 99%
“…Many patients maintain long term metabolic stability on dietary protein restriction only [1] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] . In fact, the majority of IVA case studies advise some protein restriction [1] , [2] , [3] , [4] , [5] , [6] , [7] , [9] , [11] , [14] , [15] , [16] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] but with wide differences in the amount of natural protein given. Some centres prescribe less than the WHO/FAO/UNU 2007 safe levels of protein intake [31] and may specifically calculate and control leucine intake supplemented with leucine-free l -amino acid supplements (LFAA) [3] , [5] , [22] , [23] , [26] , [27] , [28] , [29] , [32] , [33] , [34] , [35] .…”
BackgroundIn Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management.AimTo describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014).MethodsA cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA.ResultsInformation on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed.ConclusionsThis survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.
“…2 , natural protein prescription is presented by region and age. Almost half of the centres (n = 18; 47%) prescribed natural protein intakes below WHO/FAO/UNU 2007 safe levels of protein intake [27] in at least one age range. However, the use of LFAA in 12 (66%) centres improved protein intake allowing safe levels to be achieved.…”
Section: Resultsmentioning
confidence: 99%
“…However, the use of LFAA in 12 (66%) centres improved protein intake allowing safe levels to be achieved. Five of 38 centres (13%) prescribed a low protein diet (without LFAA) that did not provide safe levels of protein intake [27] in patients above 11 y (centres from France n = 2; UK, n = 2; and Italy, n = 1). Fig.…”
Section: Resultsmentioning
confidence: 99%
“…The need for LFAA has been challenged [1] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] and the use of LFAA is not advocated by the IVA-EIMD guidelines [36] . There is some suggestion that LFAA may correct amino acid imbalance or deficiency [27] , [30] , [38] , [39] but the effectiveness of this is unknown and remains unstudied with severe natural protein restriction appearing unnecessary. There is limited published IVA patient outcome data that describes dietary management in depth.…”
Section: Discussionmentioning
confidence: 99%
“…Many patients maintain long term metabolic stability on dietary protein restriction only [1] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] . In fact, the majority of IVA case studies advise some protein restriction [1] , [2] , [3] , [4] , [5] , [6] , [7] , [9] , [11] , [14] , [15] , [16] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] but with wide differences in the amount of natural protein given. Some centres prescribe less than the WHO/FAO/UNU 2007 safe levels of protein intake [31] and may specifically calculate and control leucine intake supplemented with leucine-free l -amino acid supplements (LFAA) [3] , [5] , [22] , [23] , [26] , [27] , [28] , [29] , [32] , [33] , [34] , [35] .…”
BackgroundIn Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management.AimTo describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014).MethodsA cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA.ResultsInformation on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed.ConclusionsThis survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.
“…Metabolic analyses of urine samples included analyses of amino acids (AA), organic acids (OA), acylcarnitines (AC), and oligosaccharides (OS) (Jooste et al 1994;Loots et al 2007;Sewell 2008;Van Rooyen et al 1994). Mitochondrial respiratory chain (RC) enzymes (CI-IV; EC 1.6.5.3, EC 1.3.5.1, EC 1.10.2.2, EC 1.9.3.1, respectively), pyruvate dehydrogenase complex (PDHc, EC 1.2.4.1), and citrate synthase (CS, EC 2.3.3.1) activities were measured in muscle, essentially as described by Rahman et al (1996), Janssen et al (2007), and Shepherd and Garland (1969).…”
Mitochondrial disorders are frequently encountered inherited diseases characterized by unexplained multisystem involvement with a chronic, intermittent, or progressive nature. The objective of this paper is to describe the profile of patients with mitochondrial disorders in South Africa. Patients with possible mitochondrial disorders were accessed over 10 years. Analyses for respiratory chain and pyruvate dehydrogenase complex enzymes were performed on muscle.
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