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Open AccessArticle

Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1

1
Birmingham Women’s and Children’s Hospital, Birmingham B4 6NH, UK
2
Department of Nutrition and Dietetics, Ankara Yildirim Beyazit University, 06760 Ankara, Turkey
3
Gastroenterology/ Hepatic/Nutrition, UPMC, Children’s Hospital of Pittsburg, Pittsburg, PA 15224, USA
4
Department of Nutrition and Dietetics, Ankara University, 06290 Ankara, Turkey
*
Author to whom correspondence should be addressed.
Nutrients 2020, 12(4), 1148; https://doi.org/10.3390/nu12041148
Received: 31 March 2020 / Revised: 15 April 2020 / Accepted: 15 April 2020 / Published: 19 April 2020
(This article belongs to the Special Issue Dietetics and Nutritional Aspects in Inherited Metabolic Diseases)
In a longitudinal retrospective study, we aimed to assess natural protein (NP) tolerance and metabolic control in a cohort of 20 Hereditary Tyrosinaemia type I (HTI) patients. Their median age was 12 years ([3.2–17.7 years], n = 11 female, n = 8 Caucasian, n = 8 Asian origin, n = 2 Arabic and n = 2 Indian). All were on nitisinone (NTBC) with a median dose of 0.7 g/kg/day (range 0.4–1.5 g/kg/day) and were prescribed a tyrosine (Tyr)/phenylalanine (Phe)-restricted diet supplemented with Tyr/Phe-free L-amino acids. Data were collected on clinical signs at presentation, medical history, annual dietary prescriptions, and blood Phe and Tyr levels from diagnosis until transition to the adult service (aged 16–18 years) or liver transplantation (if it preceded transition). The median age of diagnosis was 2 months (range: 0 to 24 months), with n = 1 diagnosed by newborn screening, n = 3 following phenylketonuria (PKU) screening and n = 7 by sibling screening. Five patients were transplanted (median age 6.3 years), and one died due to liver cancer. The median follow-up was 10 years (3–16 years), and daily prescribed NP intake increased from a median of 5 to 24 g/day. Lifetime median blood Tyr (370 µmol/L, range 280–420 µmol/L) and Phe (50 µmol/L, 45–70 µmol/L) were maintained within the target recommended ranges. This cohort of HTI patients were able to increase the daily NP intake with age while maintaining good metabolic control. Extra NP may improve lifelong adherence to the diet. View Full-Text
Keywords: tyrosinaemia; natural protein tolerance; metabolic control tyrosinaemia; natural protein tolerance; metabolic control
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MDPI and ACS Style

Yilmaz, O.; Daly, A.; Pinto, A.; Ashmore, C.; Evans, S.; Gupte, G.; Santra, S.; Preece, M.A.; Mckiernan, P.; Kitchen, S.; Yabanci Ayhan, N.; MacDonald, A. Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1. Nutrients 2020, 12, 1148. https://doi.org/10.3390/nu12041148

AMA Style

Yilmaz O, Daly A, Pinto A, Ashmore C, Evans S, Gupte G, Santra S, Preece MA, Mckiernan P, Kitchen S, Yabanci Ayhan N, MacDonald A. Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1. Nutrients. 2020; 12(4):1148. https://doi.org/10.3390/nu12041148

Chicago/Turabian Style

Yilmaz, Ozlem; Daly, Anne; Pinto, Alex; Ashmore, Catherine; Evans, Sharon; Gupte, Girish; Santra, Saikat; Preece, Mary A.; Mckiernan, Patrick; Kitchen, Steve; Yabanci Ayhan, Nurcan; MacDonald, Anita. 2020. "Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1" Nutrients 12, no. 4: 1148. https://doi.org/10.3390/nu12041148

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