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

Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 1148
Author(s):  
Ozlem Yilmaz ◽  
Anne Daly ◽  
Alex Pinto ◽  
Catherine Ashmore ◽  
Sharon Evans ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Clinical Signs ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Natural Protein ◽  
Day Range ◽  
Adult Service ◽  
Age Of Diagnosis ◽  
Tyrosinaemia Type 1

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.

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

Nutrients ◽  
2020 ◽  
Vol 13 (1) ◽  
pp. 134
Author(s):  
Friederike Bärhold ◽  
Uta Meyer ◽  
Anne-Kathrin Neugebauer ◽  
Eva Maria Thimm ◽  
Dinah Lier ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Protein Intake ◽  
Protein Diet ◽  
Dietary Recommendations ◽  
Blood Concentrations ◽  
Tyrosinaemia Type ◽  
Natural Protein ◽  
Low Protein ◽  
Tyrosinaemia Type 1

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.

A program to reduce onset distress in unselected type I diabetic patients: effects on psychological variables and metabolic control

1995 ◽  
Vol 132 (5) ◽  
pp. 580-586 ◽  
Author(s):  
K Spiess ◽  
G Sachs ◽  
P Pietschmann ◽  
R Prager
Keyword(s):  
Patient Education ◽  
Metabolic Control ◽  
Type I Diabetes ◽  
Intensive Treatment ◽  
Medical Psychology ◽  
Diabetic Patients ◽  
Type I ◽  
Psychological Variables ◽  
Reduction Program

Spiess K, Sachs G, Pietschmann P, Prager R. A program to reduce onset distress in unselected type I diabetic patients: effects on psychological variables and metabolic control. Eur J Endocrinol 1995;132:580–6. ISSN 0804–4643 This paper reports the results of a prospective controlled trial of a program addressing reduction of onset distress and better future adaptation in adults who were enrolled at the time of diagnosis of type I diabetes mellitus. Patients were assigned randomly to either standard intensive treatment and patient education with the distress reduction program (N = 10) or to standard intensive treatment and patient education without this program (N = 13). Prospective follow-up of patients with multiple validated measures of treatment outcome showed less anxious coping behavior, less depression and less denial at the 9-month follow-up and less denial at the 15-month follow-up in the group with the distress reduction program, but no differences in metabolic control between the two groups at any time. We conclude that our program has a positive impact on the crisis at diabetes onset; the lower denial in the treatment group may lead to improved regimen adherence in the long term. Klaus Spiess, Institute of Medical Psychology, University of Vienna, Severingasse 9, A-1090-Vienna, Austria

Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up

2005 ◽  
Vol 28 (6) ◽  
pp. 871-876 ◽  
Author(s):  
L. J. W. M. Pierik ◽  
F. J. van Spronsen ◽  
C. M. A. Bijleveld ◽  
C. M. L. van Dael
Keyword(s):  
Liver Transplantation ◽  
Renal Function ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Long Term Follow Up

Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC

2003 ◽  
Vol 26 (1) ◽  
pp. 13-16 ◽  
Author(s):  
P. Gissen ◽  
M. A. Preece ◽  
H. A. Willshaw ◽  
P. J. McKiernan
Keyword(s):  
Type I ◽  
Tyrosinaemia Type

scholarly journals Phenotypes of Encapsulating Peritoneal Sclerosis—Macroscopic Appearance, Histologic Findings, and Outcome

2013 ◽  
Vol 33 (5) ◽  
pp. 495-502 ◽  
Author(s):  
Joerg Latus ◽  
Christoph Ulmer ◽  
Peter Fritz ◽  
Bianka Rettenmaier ◽  
Dagmar Biegger ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Operation Time ◽  
Postoperative Treatment ◽  
Type I ◽  
Macroscopic Appearance ◽  
Type Iii ◽  
Significant Difference ◽  
Macroscopic Findings

BackgroundEncapsulating peritoneal sclerosis (EPS) is a rare but devastating complication of peritoneal dialysis (PD), with clinical signs of abdominal pain, bowel obstruction, and weight loss in late stages.MethodsWe retrospectively analyzed all patients who were diagnosed with EPS between March 1998 and October 2011 in our department of nephrology. We focused on the 24 EPS patients who underwent surgery because of symptomatic late-stage EPS. We identified 3 different macroscopic phenotypes of EPS that we categorized as types I – III. We correlated histologic findings with those macroscopic phenotypes of EPS. The postoperative and long-term outcomes were evaluated by macroscopic phenotype.ResultsDuration of PD was longer in type III than in types I and II EPS ( p = 0.05). We observed no other statistically significant differences between the groups in baseline characteristics, except for operation time, which was longer in the type I than in the type III group ( p = 0.02). Furthermore, we observed no statistically significant difference between the groups with respect to the onset of complaints before surgery (7.8 ± 5.9 months vs 7.0 ± 7.0 months vs 6.5 ± 5.3 months). Concerning patient outcomes, there was no evidence that any of the macroscopic EPS types was associated with more major or minor complications after surgery. For all study patients, follow-up was at least 3 years, with 19 patients still being alive, and 16 having no or very mild complaints. The typical histologic findings of EPS were present in all macroscopic types; only fibrin deposits were more prominent in type II than in type III.ConclusionsWe describe 3 subtypes of EPS based on macroscopic findings. Postoperative treatment should probably not be influenced by the macroscopic EPS phenotype. Whether the different phenotypes represent different pathophysiologic processes remains unclear and has to be further evaluated.

The KID Study III: Impact of inpatient rehabilitation on the metabolic control of type I and type II diabetics — a one-year follow-up

2009 ◽  
Vol 104 (06) ◽  
pp. 420-430 ◽  
Author(s):  
E. Haupt ◽  
R. Herrmann ◽  
A. Benecke-Timp ◽  
H. Vogel ◽  
J. Hilgenfeldt ◽  
...  
Keyword(s):  
Metabolic Control ◽  
Inpatient Rehabilitation ◽  
Type I ◽  
Type Ii ◽  
Type Ii Diabetics ◽  
One Year

scholarly journals Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up

2006 ◽  
Vol 29 (4) ◽  
pp. 597-597
Author(s):  
L. J. W. M. Pierik ◽  
F. J. van Spronsen ◽  
C. M. A. Bijleveld ◽  
C. M. L. van Dael
Keyword(s):  
Liver Transplantation ◽  
Renal Function ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Long Term Follow Up

Cardiovascular Autonomic Testing in Adolescents with Type I (Insulin-Dependent) Diabetes Mellitus: An 18-Month Follow-up Study

1998 ◽  
Vol 94 (6) ◽  
pp. 615-621 ◽  
Author(s):  
Andrea Scaramuzza ◽  
Fabrizio Salvucci ◽  
Stefano Leuzzi ◽  
Alberto Radaelli ◽  
Giuseppe d'Annunzio ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Metabolic Control ◽  
High Frequency ◽  
Baroreflex Sensitivity ◽  
Type I Diabetes ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Cardiovascular Reflexes ◽  
Type I

1. Autonomic abnormalities are frequent in adult patients with diabetes mellitus and progress slowly; little is known about frequency and progression of autonomic abnormalities in childhood. 2. To assess whether autonomic abnormalities are already present in childhood, we evaluated the cardiovascular reflexes, the spectral analysis of spontaneous fluctuations in RR interval and blood pressure (low- and high-frequency), and the baroreflex sensitivity at rest, and after vagal (controlled breathing) and sympathetic activation (tilting) in 25 adolescents with Type I diabetes mellitus, aged 10–17 years, at baseline and after 18 months follow-up, and in 20 age- and sex-matched controls. 3. Cardiovascular reflexes were similar in both patients and controls. Similar significant changes in percentage low- and high-frequency (P < 0.005) from rest to tilting and to control breathing were observed in both patients and controls. The baroreflex sensitivity was also similar in patients and controls. Mild and non-systematic correlations were observed between autonomic tests and disease duration or metabolic control. After 18 months follow-up no changes were observed in any of the measured variables. Correlations with metabolic control remained unchanged. 4. These results indicate a substantial stability of cardiovascular autonomic function in childhood diabetes, and suggest that autonomic abnormalities are likely to develop at an older age.

scholarly journals Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 3224
Author(s):  
Anne Daly ◽  
Sharon Evans ◽  
Alex Pinto ◽  
Catherine Ashmore ◽  
Anita MacDonald
Keyword(s):  
Metabolic Control ◽  
Gastrointestinal Symptoms ◽  
Type I ◽  
Normal Height ◽  
Protein Substitute ◽  
Day Range ◽  
Alternative Protein ◽  
Median Daily Dose ◽  
Tyrosinemia Type I ◽  
Long Term Impact

Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). Casein glycomacropeptide (CGMP), a bioactive peptide, is an alternative protein source to traditional amino acids (L-AA). CGMP contains residual Tyr and Phe and requires supplementation with tryptophan, histidine, methionine, leucine, cysteine and arginine. Aims: a 2-part study assessed: (1) the tolerance and acceptability of a low Tyr/Phe CGMP-based PS over 28 days, and (2) its long-term impact on metabolic control and growth over 12 months. Methods: 11 children with HTI were recruited and given a low Tyr/Phe CGMP to supply all or part of their PS intake. At enrolment, weeks 1 and 4, caregivers completed a questionnaire on gastrointestinal symptoms, acceptability and ease of PS use. In study part 1, blood Tyr and Phe were assessed weekly; in part 2, weekly to fortnightly. In parts 1 and 2, weight and height were assessed at the study start and end. Results: Nine of eleven children (82%), median age 15 years (range 8.6–17.7), took low Tyr/Phe CGMP PS over 28 days; it was continued for 12 months in n = 5 children. It was well accepted by 67% (n = 6/9), tolerated by 100% (n = 9/9) and improved gastrointestinal symptoms in 2 children. The median daily dose of protein equivalent from protein substitute was 60 g/day (range 45–60 g) with a median of 20 g/day (range 15 to 30 g) from natural protein. In part 2 (n = 5), a trend for improved blood Tyr was observed: 12 months pre-study, median Tyr was 490 μmol/L (range 200–600) and Phe 50 μmol/L (range 30–100); in the 12 months taking low Tyr/Phe CGMP PS, median Tyr was 430 μmol/L (range 270–940) and Phe 40 μmol/L (range 20–70). Normal height, weight and BMI z scores were maintained over 12 months. Conclusions: In HTI children, CGMP was well tolerated, with no deterioration in metabolic control or growth when studied over 12 months. The efficacy of CGMP in HTI needs further investigation to evaluate the longer-term impact on blood Phe concentrations and its potential influence on gut microflora

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