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Dietetics and Nutritional Aspects in Inherited Metabolic Diseases

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A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Nutrition and Metabolism".

Deadline for manuscript submissions: closed (31 July 2021) | Viewed by 18053

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Special Issue Editors

Dr. Anne Daly

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Guest Editor

Birmingham Women’s and Children’s Hospital, Steelhouse Lane, Birmingham B4 6 NH, UK
Interests: paediatric metabolic disorders;nutrition and dietetics

Prof. Dr. Júlio César Rocha

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Guest Editor

1. NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal
2. Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal
3. CINTESIS@RISE, Nutrition and Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal
Interests: inherited metabolic diseases; nutrition; dietetics; metabolism; nutritional status
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Dear Colleagues,

There are hundreds of rare inborn errors of metabolism (IEM), each of which present with different phenotypic variability and are challenging to treat. Despite the development of many drug therapies, dietary treatment plays a key role in achieving metabolic stability and prevention of metabolic decompensation. Dietary treatment is effective, affordable, safe and has a long track record in established conditions, such as phenylketonuria and glycogen storage disorders. It commonly leads to growth, development and intellectual outcome within expected parameters.

Improving outcomes in children and adults with rare metabolic disorders involves the synergy between advances in medical knowledge and new dietetic treatments. The status quo in the nutritional management and treatment of these rare disorders is not acceptable, and we need to advance dietetic knowledge, improving practice and developing innovative treatments to improve longer-term outcomes. Evaluating new evidence on the impact of dietary intervention or use of novel nutrients in treating rare disorders allows changes to practice, treatment, and long-term outcome measures.

Research collaboration both within and between countries is important in order to study larger patient cohorts to develop a robust evidence base to develop optimal and patient-focussed treatment strategies. This Special Edition will highlight the importance of collaboration across countries, metabolic centres and disciplines and demonstrate how systematic research evidence leads to the development and improvement of nutritional therapies in rare disorders.

Dr. Anne Daly
Prof. Dr. Júlio César Rocha
Guest Editors

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10 pages, 555 KiB

Open AccessArticle

Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study

by Ozlem Yilmaz, Anne Daly, Alex Pinto, Catherine Ashmore, Sharon Evans, Girish Gupte, Richard Jackson, Nurcan Yabanci Ayhan and Anita MacDonald

Nutrients 2021, 13(9), 3070; https://doi.org/10.3390/nu13093070 - 31 Aug 2021

Cited by 2 | Viewed by 2658

Abstract

In a retrospective review, we aimed to assess long-term growth in 17 patients (n = 11 males) with hereditary tyrosinaemia type I (HTI). Median age at assessment was 15.6 years (5.7–26.6 years) and median age at diagnosis was 1 month (range: 0–16 months), with 35% (n = 6/17) symptomatic on presentation. From the age of 8 years, there was a noticeable change in median height, weight, and body-mass-index [BMI]-z-scores. Median height-for-age z-scores were consistently ≤ −1 (IQR −1.6, −0.5) during the first 8 years of life but increased with age. Weight-for-age z-scores ranged between −1 to 0 (IQR −1.2, 0.1) in the first 8 years; then increased to > 0.5 (IQR −0.3, 1.3) by age 16 years, and BMI-for-age z-scores ranged from 0 to 1 (IQR −0.7, 1.3) up to 8 years, and >1 (IQR −0.2, 1.9) until 16 years. The percentage of overweight and obesity was lowest in children aged < 5 years, and consistently > 40% in patients aged between 7 to 16 years. The prescribed total protein intake was associated with improved height growth (p < 0.01). Impaired growth in early life improved with age achieving normal population standards. Further studies are needed to investigate factors that influence growth outcome in HTI patients. Full article

(This article belongs to the Special Issue Dietetics and Nutritional Aspects in Inherited Metabolic Diseases)

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12 pages, 1065 KiB

Open AccessArticle

Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult Team

by Maria Peres, Manuela F. Almeida, Élia J. Pinto, Carla Carmona, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Anita MacDonald and Júlio C. Rocha

Nutrients 2021, 13(3), 799; https://doi.org/10.3390/nu13030799 - 28 Feb 2021

Cited by 11 | Viewed by 2908

Abstract

We aimed to report the implementation of a phenylketonuria (PKU) transition program and study the effects of follow-up with an adult team on metabolic control, adherence, and loss of follow-up. Fifty-five PKU patients were analysed in the study periods (SP): 2 years before (SP1) and after the beginning of adult care (SP2). Retrospective data on metabolic control and number of clinic appointments were collected for each SP, and protein intakes were analysed. In SP2, three patients (6%) were lost to follow-up. There was a small but statistically significant increase in median number of annual blood spots from SP1 to SP2: 11 (7–15) vs. 14 (7–20); p = 0.002. Mean ± SD of median blood Phe remained stable (525 ± 248 µmol/L vs. 552 ± 225 µmol/L; p = 0.100); median % of blood Phe < 480 µmol/L decreased (51 (4–96)% vs. 37 (5–85)%; p = 0.041) and median number of clinic appointments increased from SP1 to SP2: (5 (4–6) vs. 11 (8–13); p < 0.001). No significant differences were found regarding any parameter of protein intake. Our results suggest that the implementation of an adult service was successful as impact on metabolic control was limited and attendance remained high. Continuous dietetic care likely contributed to these results by keeping patients in follow-up and committed to treatment. Full article

(This article belongs to the Special Issue Dietetics and Nutritional Aspects in Inherited Metabolic Diseases)

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12 pages, 5691 KiB

Open AccessArticle

Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome

by Friederike Bärhold, Uta Meyer, Anne-Kathrin Neugebauer, Eva Maria Thimm, Dinah Lier, Stefanie Rosenbaum-Fabian, Ulrike Och, Anna Fekete, Dorothea Möslinger, Carmen Rohde, Skadi Beblo, Michel Hochuli, Nina Bogovic, Vanessa Korpel, Stephan vom Dahl, Sebene Mayorandan, Aleksandra Fischer, Peter Freisinger, Katharina Dokoupil, Margret Heddrich-Ellerbrok, Monika Jörg-Streller, Agnes van Teeffelen-Heithoff, Janina Lahl and Anibh Martin Das Show full author list Hide full author list

Nutrients 2021, 13(1), 134; https://doi.org/10.3390/nu13010134 - 31 Dec 2020

Cited by 7 | Viewed by 3082

Abstract

Background: Tyrosinaemia type 1 is a rare inherited metabolic disease caused by an enzyme defect in the tyrosine degradation pathway. It is treated using nitisinone and a low-protein diet. In a workshop in 2013, a group of nutritional specialists from Germany, Switzerland and Austria agreed to advocate a simplified low-protein diet and to allow more natural protein intake in patients with tyrosinaemia type 1. This retrospective study evaluates the recommendations made at different treatment centers and their impact on clinical symptoms and metabolic control. Methods: For this multicenter study, questionnaires were sent to nine participating treatment centers to collect data on the general therapeutic approach and data of 47 individual patients treated by those centers. Results: Dietary simplification allocating food to 3 categories led to increased tyrosine and phenylalanine blood concentrations without weighing food. Phenylalanine levels were significantly higher in comparison to a strict dietary regimen whereas tyrosine levels in plasma did not change. Non-inferiority was shown for the simplification and liberalization of the diet. Compliance with dietary recommendations was higher using the simplified diet in comparison to the stricter approach. Age correlates negatively with compliance. Conclusions: Simplification of the diet with increased natural protein intake based on three categories of food may be implemented in the diet of patients with tyrosinaemia type 1 without significantly altering metabolic control. Patient compliance is strongly influencing tyrosine blood concentrations. A subsequent prospective study with a larger sample size is necessary to get a better insight into the effect of dietary recommendations on metabolic control. Full article

(This article belongs to the Special Issue Dietetics and Nutritional Aspects in Inherited Metabolic Diseases)

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21 pages, 1463 KiB

Open AccessArticle

Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK

by Alex Pinto, Catherine Ashmore, Spyros Batzios, Anne Daly, Charlotte Dawson, Marjorie Dixon, Sharon Evans, Diane Green, Joanna Gribben, Inderdip Hunjan, Elisabeth Jameson, Camille Newby, Germaine Pierre, Sanjay Rajwal, Louise Robertson, Si Santra, Mark Sharrard, Roshni Vara, Lucy White, Gisela Wilcox, Ozlem Yilmaz and Anita MacDonald Show full author list Hide full author list

Nutrients 2020, 12(11), 3313; https://doi.org/10.3390/nu12113313 - 29 Oct 2020

Cited by 16 | Viewed by 3897

Abstract

Background: Little is known about the optimal dietary treatment for citrin deficiency. Our aim is to describe the management of UK citrin deficiency patients. Methods: A longitudinal retrospective review was performed. Data were collected from medical records on presenting signs and symptoms, dietary management and clinical outcome. Results: data were collected on 32 patients from 21 families. 50% were females (16/32). Median age at diagnosis was 4 y (5 days–35 y) with 12 patients diagnosed in the neonatal period with neonatal intrahepatic cholestasis (NICCD), eight later in childhood (FTTDCD) and 12 by family screening based on index cases from five families. No patient had adult-onset type II citrullinemia. The patient age at the time of data collection was a median of 11 y (1–44 y). 91% (29/32) of patients had normal physical and neurological development, 47% (15/32) experienced recurrent unexplained abdominal pain and 9% (3/32) episodes of hypoglycaemia. Siblings had different phenotypes (5 families had > 1 affected patient). Most patients preferred high protein foods, limiting sugar-containing foods. Only 41% (13/32) were prescribed a low CHO, high protein, high fat diet (restriction varied) and two used medium chain triglyceride (MCT) supplements. No patient was prescribed drug therapy. Twenty-five per cent (8/32) of patients were underweight and 41% (13/32) had height <−1 z-scores. Conclusions: patients presented with various phenotypes, symptoms and suboptimal growth. Symptoms and biochemical markers improved with age, but height remained low in some. More research is necessary to assess the effectiveness of dietary approaches in improving clinical outcomes and symptoms in citrin deficiency. Full article

(This article belongs to the Special Issue Dietetics and Nutritional Aspects in Inherited Metabolic Diseases)

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16 pages, 909 KiB

Open AccessArticle

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

by Ozlem Yilmaz, Anne Daly, Alex Pinto, Catherine Ashmore, Sharon Evans, Girish Gupte, Saikat Santra, Mary Anne Preece, Patrick Mckiernan, Steve Kitchen, Nurcan Yabanci Ayhan and Anita MacDonald

Nutrients 2020, 12(4), 1148; https://doi.org/10.3390/nu12041148 - 19 Apr 2020

Cited by 8 | Viewed by 3527

Abstract

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. Full article

(This article belongs to the Special Issue Dietetics and Nutritional Aspects in Inherited Metabolic Diseases)

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