UK Dietary Practices for Tyrosinaemias: Time for Change
Abstract
:1. Introduction
2. Methods
- The general dietary principles to be used for HTI, HTII and HTIII.
- The dietary exchange system to be adopted: either a 1 g protein exchange system or a combination of tyrosine/phenylalanine (mg/100 g protein). This distinguished between foods that contain 5% phenylalanine and 3–4% tyrosine for each gram of protein from milk and cereals and foods that contain 3–4% phenylalanine and 2–3% tyrosine for each gram of protein from fruit and vegetables [18].
- Clear definitions for measuring/calculating protein or phenylalanine/tyrosine from manufactured foods and when these can be given as part of the dietary exchange system or given without measurement.
- (1)
- ‘McCance and Widdowson’s The Composition of Foods’ 1980, First supplementary amino acid mg/100 g foods [18];
- (2)
- National society for phenylketonuria (NSPKU) database [19] and (personal communication);
- (3)
- Amino acid composition of food products used in the treatment of patients with disorders of amino acid and protein metabolism [20];
- (4)
- United States of America Department of Agriculture (USDA: United States Department of Agriculture, Agriculture Research Service www.usda.gov (accessed on 3 March 2021)) [21];
- (5)
- Mevalia website database (www.Mevalia.com (accessed on 3 March 2020)) based on Frida.fooddata.dk version 4 National Food Institute, Technical University of Denmark [22].
- The number and types of HT patients being managed in each treatment centre;
- The dietary management practices of each treatment centre, including the type of exchange system used;
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
- Holme, E.; Lindstedt, S. Nontransplant treatment of tyrosinemia. Clin. Liver Dis. 2000, 4, 805–814. [Google Scholar] [CrossRef] [PubMed]
- Van Spronsen, F.J.; Thomasse, Y.; Smit, G.P.; Leonard, J.V.; Clayton, P.T.; Fidler, V.; Berger, R.; Heymans, H.S. Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment. Hepatology 1994, 20, 1187–1191. [Google Scholar] [CrossRef] [PubMed]
- Iskeleli, G.; Bilgec, M.D.; Arici, C.; Atalay, E.; Oğreden, T.; Aydin, A. Richner-Hanhart syndrome (tyrosinemia type II): A case report of delayed diagnosis with pseudodendritic corneal lesion. Turk. J. Pediatr. 2011, 53, 692–694. [Google Scholar] [PubMed]
- Miranda, B.A.; Rocha, A.C.H.; Arantes, R.R.; Kanufre, V.D.C.; Silva, S.C.; Vasconcelos-Santos, D.V. Bilateral recurrent pseudodendritic keratopathy as the initial manifestation of tyrosinemia type II. Ophthalmic Genet. 2022, 43, 282–284. [Google Scholar] [CrossRef]
- Cerone, R.; Holme, E.; Schiaffino, M.C.; Caruso, U.; Maritano, L.; Romano, C. Tyrosinemia type III: Diagnosis and ten-year follow-up. Acta Paediatr. 1997, 86, 1013–1015. [Google Scholar] [CrossRef]
- Ellaway, C.J.; Holme, E.; Standing, S.; Preece, M.A.; Green, A.; Ploechl, E.; Ugarte, M.; Trefz, F.K.; Leonard, J.V. Outcome of tyrosinaemia type III. J. Inherit Metab. Dis. 2001, 24, 824–832. [Google Scholar] [CrossRef]
- Dam, E.V.; Daly, A.; Venema-Liefaard, G.; Rijn, M.V.; Derks, T.G.; McKiernan, P.J.; Rebecca Heiner-Fokkema, M.; MacDonald, A.; Spronsen, F.J.V. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? JIMD Rep. 2017, 36, 49–57. [Google Scholar]
- Bärhold, F.; Meyer, U.; Neugebauer, A.-K.; Thimm, E.M.; Lier, D.; Rosenbaum-Fabian, S.; Och, U.; Fekete, A.; Möslinger, D.; Rohde, C.; et al. Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome. Nutrients 2020, 13, 134. [Google Scholar] [CrossRef]
- Chinsky, J.M.; Singh, R.; Ficicioglu, C.; Van Karnebeek, C.D.; Grompe, M.; Mitchell, G.; Waisbren, S.E.; Gucsavas-Calikoglu, M.; Wasserstein, M.P.; Coakley, K.; et al. Diagnosis and treatment of tyrosinemia type I: A US and Canadian consensus group review and recommendations. Genet Med. 2017, 19, 1380. [Google Scholar] [CrossRef] [Green Version]
- Barroso, F.; Correia, J.; Bandeira, A.; Carmona, C.; Vilarinho, L.; Almeida, M.; Rocha, J.C.; Martins, E. Tyrosinemia Type Iii: A Case Report of Siblings and Literature Review. Rev. Paul. Pediatr. 2020, 38, e2018158. [Google Scholar] [CrossRef]
- Szymanska, E.; Sredzinska, M.; Ciara, E.; Piekutowska-Abramczuk, D.; Ploski, R.; Rokicki, D.; Tylki-Szymanska, A. Tyrosinemia type III in an asymptomatic girl. Mol. Genet Metab. Rep. 2015, 5, 48–50. [Google Scholar] [CrossRef] [PubMed]
- Couce, M.L.; Aldámiz-Echevarría, L.; Baldellou, A.; Blasco, J.; Bueno, M.A.; Dalmau, J.; De La Vega, A.; Del Toro, M.; Díaz, C.; Lama, R.; et al. Recommendations and management of type I hereditary or hepatorenal tyrosinemia. An. Pediatr. 2010, 73, 279.e1–279.e4. [Google Scholar] [CrossRef] [PubMed]
- De Laet, C.; Dionisi-Vici, C.; Leonard, J.V.; McKiernan, P.; Mitchell, G.; Monti, L.; De Baulny, H.O.; Pintos-Morell, G.; Spiekerkötter, U. Recommendations for the management of tyrosinaemia type 1. Orphanet J. Rare Dis. 2013, 8, 8. [Google Scholar] [CrossRef] [Green Version]
- Clinical Paediatric Dietetics, 5th ed.; Shaw, V. (Ed.) CPI Group (UK) Ltd.: Croydon, UK, 2020. [Google Scholar]
- Evans, S.; Ford, S.; Adam, S.; Adams, S.; Ash, J.; Ashmore, C.; Caine, G.; Carruthers, R.; Cawtherley, S.; Chahal, S.; et al. Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU. Orphanet J. Rare Dis. 2019, 14, 2. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Evans, S.; Adam, S.; Adams, S.; Allen, H.; Ashmore, C.; Bailey, S.; Banks, J.; Churchill, H.; Cochrane, B.; Cook, J.; et al. Uniformity of Food Protein Interpretation Amongst Dietitians for Patients with Phenylketonuria (PKU): 2020 UK National Consensus Statements. Nutrients 2020, 12, 2205. [Google Scholar] [CrossRef] [PubMed]
- Niederberger, M.; Spranger, J. Delphi Technique in Health Sciences: A Map. Front. Public Health 2020, 8, 457. [Google Scholar] [CrossRef]
- McCance, R.A.; Widdowson Elsie, M.; Paul, A.A.; Southgate, D.A.T.; Russell, J. McCance and Widdowson’s The Composition of Foods. In 1st Supplementary Amino Acids, Mg Per 100G Food, Fatty Acids G per 100G Food; HMSO: London, UK, 1980. [Google Scholar]
- Weetch, E.; Macdonald, A. The determination of phenylalanine content of foods suitable for phenylketonuria. J. Hum. Nutr. Diet 2006, 19, 229–236. [Google Scholar] [CrossRef]
- Bremer, H.J.; Anninos, A.; Schulz, B. Amino acid composition of food products used in the treatment of patients with disorders of the amino acid and protein metabolism. Eur. J. Pediatr. 1996, 155 (Suppl. S1), S108–S114. [Google Scholar] [CrossRef]
- USDA. United States Department of Agriculture, Agriculture Research Service. Available online: www.usda.gov (accessed on 3 March 2021).
- Denmark Techinical University. National Food Institute. Available online: www.frida.fooddata.dk (accessed on 3 March 2021).
- MacDonald, A.; Van Wegberg, A.M.J.; Ahring, K.; Beblo, S.; Bélanger-Quintana, A.; Burlina, A.; Campistol, J.; Coşkun, T.; Feillet, F.; Giżewska, M.; et al. PKU dietary handbook to accompany PKU guidelines. Orphanet J. Rare Dis. 2020, 15, 171. [Google Scholar] [CrossRef]
- Paul, A.A.; Southgate, D.A.; Buss, D.H. McCance and Widdowson’s ‘The composition of foods’: Supplementary information and review of new compositional data. Hum. Nutr. Appl. Nutr. 1986, 40, 287–299. [Google Scholar]
- van Vliet, K.; Rodenburg, I.L.; van Ginkel, W.G.; Lubout, C.M.; Wolffenbuttel, B.H.; van der Klauw, M.M.; Heiner-Fokkema, M.R.; van Spronsen, F.J. Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients. Nutrients 2019, 11, 2011. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Äärelä, L.; Hiltunen, P.; Soini, T.; Vuorela, N.; Huhtala, H.; Nevalainen, P.I.; Heikinheimo, M.; Kivelä, L.; Kurppa, K. Type 1 tyrosinemia in Finland: A nationwide study. Orphanet J. Rare Dis. 2020, 15, 281. [Google Scholar] [CrossRef] [PubMed]
- Masurel-Paulet, A.; Poggi-Bach, J.; Rolland, M.-O.; Bernard, O.; Guffon, N.; Dobbelaere, D.; Sarles, J.; De Baulny, H.O.; Touati, G. NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients. J. Inherit Metab. Dis. 2008, 31, 81–87. [Google Scholar] [CrossRef] [PubMed]
- Mayorandan, S.; Meyer, U.; Gokcay, G.; Segarra, N.G.; De Baulny, H.O.; Van Spronsen, F.; Zeman, J.; De Laet, C.; Spiekerkoetter, U.; Thimm, E.; et al. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet. J. Rare Dis. 2014, 9, 107. [Google Scholar] [CrossRef] [Green Version]
- van Ginkel, W.G.; van Reemst, H.E.; Kienstra, N.S.; Daly, A.; Rodenburg, I.L.; MacDonald, A.; Burgerhof, J.G.; de Blaauw, P.; van de Krogt, J.; Santra, S.; et al. The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients. Nutrients 2019, 11, 2816. [Google Scholar] [CrossRef] [Green Version]
- Spronsen, F.J.V.; Rijn, M.V.; Meyer, U.; Das, A.M. Dietary Considerations in Tyrosinemia Type I. Adv. Exp. Med. Biol. 2017, 959, 197–204. [Google Scholar]
- Yilmaz, O.; Daly, A.; Pinto, A.; Ashmore, C.; Evans, S.; Gupte, G.; Santra, S.; Preece, M.A.; McKiernan, P.; Kitchen, S.; et al. Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1. Nutrients 2020, 12, 1148. [Google Scholar] [CrossRef] [Green Version]
- MacDonald, A. Diet and phenylketonuria: A time for change. J. Hum. Nutr. Diet. 1994, 7, 105–114. [Google Scholar] [CrossRef]
- Van Wegberg, A.M.J.; Macdonald, A.; Ahring, K.; BéLanger-Quintana, A.; Blau, N.; Bosch, A.M.; Burlina, A.; Campistol, J.; Feillet, F.; Giżewska, M.; et al. The complete European guidelines on phenylketonuria: Diagnosis and treatment. Orphanet J. Rare Dis. 2017, 12, 162. [Google Scholar] [CrossRef] [Green Version]
- Moughan, P.J. Amino acid availability: Aspects of chemical analysis and bioassay methodology. Nutr. Res. Rev. 2003, 16, 127–141. [Google Scholar] [CrossRef] [Green Version]
- Otter, D.E. Standardised methods for amino acid analysis of food. Br. J. Nutr. 2012, 108 (Suppl. S2), S230–S237. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Mandrioli, R.; Mercolini, L.; Raggi, M.A. Recent trends in the analysis of amino acids in fruits and derived foodstuffs. Anal. Bioanal. Chem. 2013, 405, 7941–7956. [Google Scholar] [CrossRef] [PubMed]
Number of Paediatric Centres Caring for HT Patients Aged ≤16 Years (Range for Number of Patients/Centre) | Number of Patients Aged ≤16 Years n | Number of Adult Centres Caring for HT Patients Aged ≥17 Years (Range for Number of Patients/Centre) | Number of Patients Aged ≥17 Years n | Total Number of Patients n |
---|---|---|---|---|
HTI n = 8/8 (1–12) | 44 | HTI n = 4/6 (3–12) | 31 | 75 |
HTII n = 5/8 (1) | 5 | HTII n = 4/6 (1–2) | 5 | 10 |
HTIII n = 3/8 (1–4) | 7 | HTIII n = 2/6 (2–3) | 7 | 14 |
Adult and Paediatric Responses | HTI (n = 12 Centres) | HTII (n = 9 Centres) | HTII (n = 6 Centres) |
---|---|---|---|
Manufactured Foods | |||
Use of 1 g protein exchanges to calculate exchanges from manufactured foods | 12/12 (100%) | 7/9 (78%) | 5/6 (83%) |
Use of phenylalanine/tyrosine exchanges | 0/12 (0%) | 0/9 (0%) | 0/6 (0%) |
Fruit and vegetables | |||
The upper protein cut off point (g/100 g) that is used to define when vegetables are calculated/measured within the exchange system * | |||
≤1.0 g | 7/8 (88%) | 3/5 (60%) | 2/3 (67%) |
≤1.5 g | 1/8 (13%) | 1/5(20%) | 1/3 (33%) |
≤2.0 g | 0/8 (0%) | 1/5 (20%) | 0/3 (0%) |
The upper protein cut off point (g/100 g) that is used to define when fruits are calculated/measured within the exchange system * | |||
≤1.0 g | 8/9 (89%) | 4/6 (67%) | 2/3 (67%) |
≤1.5 g | 1/9 (11%) | 1/6 (17%) | 1/3 (33%) |
≤2.0 g | 0/9 (0%) | 1/6 (17%) | 0/3 (0%) |
Voting Agreement by Treatment Centres | Number or Voting Rounds | |||
---|---|---|---|---|
HTI Number of Centres n = 12 | HTII Number of Centres n = 9 | HTIII Number of Centres n = 6 | ||
Statement 1: the following protein cut-off point is used to define an exchange-free food i.e., if the protein content exceeds this amount, it should be calculated as an exchange food (this is the same as the UK PKU dietary guidelines) [16] * | ||||
An exchange-free food defined as a food not calculated/measured, and when the protein content is ≤0.5 g/100 g (except fruit, vegetables and some manufactured foods e.g., sweets, gravies and desserts) | 11/12 (92%) | 6/6 (100%) | 4/4 (100%) | Round 1 |
Statement 2–9: the following manufactured foods should be calculated/measured as part of the protein exchange system if the protein content exceeds the following upper protein amounts given below (this is the same as the UK PKU dietary guidelines) [16] * | ||||
Tabletop sauces (e.g., ketchup, brown, chilli, BBQ sauces) containing exchange ingredients with a protein content >1 g/100 g | 10/12 (83%) | 4/6 (67%) | 2/3 (67%) | Round 1 |
Mayonnaise/salad cream dressings containing exchange ingredients with a protein content >1 g/100 g | 11/12 (92%) | 5/6 (84%) | 2/3 (67%) | Round 1 |
Cook-in liquid sauces containing exchange ingredients with a protein content >1 g/100 g | 12/12 (100%) | 6/6 (100%) | 3/3 (100%) | Round 1 |
Soya sauce with a protein content >1.5 g/100 g | 10/12 (83%) | 4/6 (67%) | 2/3 (67%) | Round 1 |
Special low protein foods containing exchange ingredients with a protein content >0.5 g/100 g | 10/11 (91%) | 6/6 (100%) | 3/3 (100%) | Round 1 |
Plant milks/special low protein milks are exchange-free if protein content is ≤0.1 g/100 mL; and should be calculated/ measured as part of protein exchange system if the protein content is >0.1 g/100 mL | 7/10 (70%) | 3/5 (60%) | 1/2 (50%) | Round 1 |
The protein cut off point for plant milks should be: ≤0.1 g/100 mL = exchange-free; >0.1 g/100 mL is an exchange food. This guidance applies to HTI, HTII, HTIII | 6/11 (55%) | Round 2 | ||
The majority of plant milks should be calculated as a protein exchange in tyrosinemia. However, any plant milk containing a protein content of only 0.1 g/100 mL can be given as exchange-free. This statement applies to HTI, HTII, HTIII | 10/11 (91%) | Final Round 3 | ||
Statement 10: Phenylalanine/tyrosine analysis should be used in the allocation of fruit and vegetables in the dietary treatment of HT’s | ||||
Phenylalanine/tyrosine analysis | 9/11 (82%) | 5/6 (83%) | 3/3 (100%) | Round 2 |
Protein analysis | 2/11 (18%) | 1/6 (17%) | 0/3 (0%) | |
Statement 11: The same dietary system should be used for Tyrosinaemia Type I, II and III | ||||
Agreement | 9/9 (100%) | Round 2 |
Food | Protein /100 g | Phe mg /100 g | Tyr mg /100 g | * Phe g /100 g | * Tyr g /100 g | % Phe/g Protein | % Tyr/g Protein |
---|---|---|---|---|---|---|---|
Protein, phenylalanine and tyrosine content of meat, milk, egg | |||||||
Beef cooked | 29.2 | 1310 | 1120 | 1.3 | 1.1 | 4 | 4 |
Egg boiled | 12.3 | 630 | 490 | 0.6 | 0.5 | 5 | 4 |
Yoghurt | 4.8 | 280 | 240 | 0.3 | 0.2 | 6 | 5 |
Milk | 3.3 | 180 | 150 | 0.2 | 0.2 | 5 | 5 |
Protein, phenylalanine and tyrosine content of cereal-based foods | |||||||
Oats | 12.4 | 660 | 450 | 0.7 | 0.5 | 5 | 4 |
Cornflakes | 8.6 | 430 | 330 | 0.4 | 0.3 | 5 | 4 |
White flour | 9.8 | 520 | 280 | 0.5 | 0.3 | 5 | 3 |
Rice boiled | 2.2 | 110 | 93 | 0.1 | 0.1 | 5 | 4 |
Porridge | 1.4 | 74 | 50 | 0.1 | 0.1 | 5 | 4 |
Protein, phenylalanine and tyrosine content of vegetables | |||||||
Mushroom fried | 2.2 | 120 | 110 | 0.1 | 0.1 | 5 | 5 |
Beetroot | 1.3 | 46 | 46 | 0.05 | 0.05 | 3.5 | 3.5 |
Carrots boiled | 0.6 | 17 | 14 | 0.02 | 0.01 | 3 | 2 |
Tomatoes | 0.9 | 15 | 11 | 0.02 | 0.01 | 1.6 | 1.2 |
Turnips | 0.9 | 14 | 10 | 0.01 | 0.01 | 1.5 | 1.1 |
Fruit/Vegetable | Comment | Decision of the Group |
---|---|---|
Cauliflower | Of 8 different international analyses, 5/8 indicated that cauliflower was low in protein, tyrosine and phenylalanine, and 3/8 suggested it should be considered an exchange vegetable. Further analysis is necessary. | To include as an exchange vegetable until further analysis is available, in line with current recommendations for PKU. |
Mushrooms | Seven of 8 analyses suggested a low tyrosine/phenylalanine content so should be considered an exchange-free vegetable, although the protein content was >2 g/100 g for 7/8 analyses. However, mushrooms have a measurable amount of non-protein nitrogen in the form of urea, purines and pyrimidines. | To include as an exchange-free vegetable. |
Watercress | There was limited protein and tyrosine/phenylalanine analyses (n = 3). The UK analysis suggested that watercress was low in tyrosine/phenylalanine although protein content >2 g/100 g. | To include as an exchange-free vegetable until further analysis is available, in line with current recommendations for PKU. |
Avocado | Although the protein content was ≤2.0 g/100 g, 2/6 international phenylalanine analyses exceeded 75 mg/100 g, but 4/6 were ≤75 mg/100 g. | To include as an exchange-free vegetable until further analysis is available, in line with current recommendations for PKU. |
Prunes | There was limited protein and tyrosine/phenylalanine analysis (n = 1). Although the protein content was >2.0 g/100 g, the tyrosine/phenylalanine content was low. | To include as an exchange-free fruit until further analysis is available. |
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Daly, A.; Adam, S.; Allen, H.; Ash, J.; Dale, C.; Dixon, M.; Dunlop, C.; Ellerton, C.; Evans, S.; Firman, S.; et al. UK Dietary Practices for Tyrosinaemias: Time for Change. Nutrients 2022, 14, 5202. https://doi.org/10.3390/nu14245202
Daly A, Adam S, Allen H, Ash J, Dale C, Dixon M, Dunlop C, Ellerton C, Evans S, Firman S, et al. UK Dietary Practices for Tyrosinaemias: Time for Change. Nutrients. 2022; 14(24):5202. https://doi.org/10.3390/nu14245202
Chicago/Turabian StyleDaly, Anne, Sarah Adam, Heather Allen, Jane Ash, Clare Dale, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Sharon Evans, Sarah Firman, and et al. 2022. "UK Dietary Practices for Tyrosinaemias: Time for Change" Nutrients 14, no. 24: 5202. https://doi.org/10.3390/nu14245202