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.

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.

Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Thomas Zöggeler ◽  
Gabriele Ramoser ◽  
Alexander Höller ◽  
Monika Jörg-Streller ◽  
Nils Janzen ◽  
...  
Keyword(s):  
Case Report ◽  
Initial Increase ◽  
Blood Concentrations ◽  
Tyrosinaemia Type ◽  
Case Presentation ◽  
Tyrosine Metabolism ◽  
Age Appropriate ◽  
Tyrosinaemia Type 1 ◽  
Tyrosinemia Type 1

Abstract Objectives Tyrosinaemia type 1, an inherited disorder of tyrosine metabolism, is usually treated with a tyrosine-defined diet and since 2000 with nitisinone. So far, data about effects of nitisone during pregnancy and breastfeeding are rare. This is the first report of two pregnancies in a patient with tyrosinaemia type 1 while under treatment with nitisinone. Case presentation We here present a 20-year-old female patient with tyrisonemia type 1 receiving treatment with nitisinone and a tyrosine-defined diet since she was diagnosed with tyrosinaemia type 1 at the age of 18 months. During two pregnancies blood concentrations of tyrosine, succinylacetone and nitisinone were measured regularly. Neither infant has tyrosinaemia type 1 and both showed an initial increase in concentrations of tyrosine, succinylacetone and nitisinone. All three metabolites dropped within two weeks after birth. Both were exclusively breastfed for about two weeks. Both children show age-appropriate physical and mental development. Conclusions Nitisinone therapy during pregnancy and the short breastfeeding period did not result in adverse events in our patient or her children. Regular assessments of tyrosine, succinylacetone and nitisinone should be made during pregnancy and the breastfeeding period in both the mother and the infant. For better understanding, in principle, all cases of pregnancy and breastfeeding with tyrosinemia type 1 should be assessed and followed to further evaluate the implications of tyrosinaemia type 1 and its treatment during pregnancy. Additionally, even though experience with breastfeeding is limited, medication with nitisinone is safe and there is no reason to consider breastfeeding unsafe or to not recommend it.

scholarly journals Protein intake and outcome of critically ill patients: analysis of a large international database using piece-wise exponential additive mixed models

Critical Care ◽  
2022 ◽  
Vol 26 (1) ◽  
Author(s):  
Wolfgang H. Hartl ◽  
Philipp Kopper ◽  
Andreas Bender ◽  
Fabian Scheipl ◽  
Andrew G. Day ◽  
...  
Keyword(s):  
Hospital Discharge ◽  
Critically Ill ◽  
Acute Phase ◽  
Critically Ill Patients ◽  
Protein Intake ◽  
High Protein ◽  
Protein Diet ◽  
High Protein Intake ◽  
Low Protein ◽  
Standard Protein

Abstract Background Proteins are an essential part of medical nutrition therapy in critically ill patients. Guidelines almost universally recommend a high protein intake without robust evidence supporting its use. Methods Using a large international database, we modelled associations between the hazard rate of in-hospital death and live hospital discharge (competing risks) and three categories of protein intake (low: < 0.8 g/kg per day, standard: 0.8–1.2 g/kg per day, high: > 1.2 g/kg per day) during the first 11 days after ICU admission (acute phase). Time-varying cause-specific hazard ratios (HR) were calculated from piece-wise exponential additive mixed models. We used the estimated model to compare five different hypothetical protein diets (an exclusively low protein diet, a standard protein diet administered early (day 1 to 4) or late (day 5 to 11) after ICU admission, and an early or late high protein diet). Results Of 21,100 critically ill patients in the database, 16,489 fulfilled inclusion criteria for the analysis. By day 60, 11,360 (68.9%) patients had been discharged from hospital, 4,192 patients (25.4%) had died in hospital, and 937 patients (5.7%) were still hospitalized. Median daily low protein intake was 0.49 g/kg [IQR 0.27–0.66], standard intake 0.99 g/kg [IQR 0.89– 1.09], and high intake 1.41 g/kg [IQR 1.29–1.60]. In comparison with an exclusively low protein diet, a late standard protein diet was associated with a lower hazard of in-hospital death: minimum 0.75 (95% CI 0.64, 0.87), and a higher hazard of live hospital discharge: maximum HR 1.98 (95% CI 1.72, 2.28). Results on hospital discharge, however, were qualitatively changed by a sensitivity analysis. There was no evidence that an early standard or a high protein intake during the acute phase was associated with a further improvement of outcome. Conclusions Provision of a standard protein intake during the late acute phase may improve outcome compared to an exclusively low protein diet. In unselected critically ill patients, clinical outcome may not be improved by a high protein intake during the acute phase. Study registration ID number ISRCTN17829198

scholarly journals Serum metabolites associated with dietary protein intake: results from the Modification of Diet in Renal Disease (MDRD) randomized clinical trial

2019 ◽  
Vol 109 (3) ◽  
pp. 517-525 ◽  
Author(s):  
Casey M Rebholz ◽  
Zihe Zheng ◽  
Morgan E Grams ◽  
Lawrence J Appel ◽  
Mark J Sarnak ◽  
...  
Keyword(s):  
Glomerular Filtration Rate ◽  
Amino Acid ◽  
Dietary Protein ◽  
Protein Intake ◽  
Filtration Rate ◽  
Protein Diet ◽  
Low Protein Diet ◽  
Dietary Protein Intake ◽  
Low Protein ◽  
P 16

ABSTRACT Background Accurate assessment of dietary intake is essential, but self-report of dietary intake is prone to measurement error and bias. Discovering metabolic consequences of diets with lower compared with higher protein intake could elucidate new, objective biomarkers of protein intake. Objectives The goal of this study was to identify serum metabolites associated with dietary protein intake. Methods Metabolites were measured with the use of untargeted, reverse-phase ultra-performance liquid chromatography–tandem mass spectrometry quantification in serum specimens collected at the 12-mo follow-up visit in the Modification of Diet in Renal Disease (MDRD) Study from 482 participants in study A (glomerular filtration rate: 25–55 mL · min−1 · 1.73 m−2) and 192 participants in study B (glomerular filtration rate: 13–24 mL · min−1 · 1.73 m−2). We used multivariable linear regression to test for differences in log-transformed metabolites (outcome) according to randomly assigned dietary protein intervention groups (exposure). Statistical significance was assessed at the Bonferroni-corrected threshold: 0.05/1193 = 4.2 × 10−5. Results In study A, 130 metabolites (83 known from 28 distinct pathways, including 7 amino acid pathways; 47 unknown) were significantly different between participants randomly assigned to the low-protein diet compared with the moderate-protein diet. In study B, 32 metabolites (22 known from 8 distinct pathways, including 4 amino acid pathways; 10 unknown) were significantly different between participants randomly assigned to the very-low-protein diet compared with the low-protein diet. A total of 11 known metabolites were significantly associated with protein intake in the same direction in both studies A and B: 3-methylhistidine, N-acetyl-3-methylhistidine, xanthurenate, isovalerylcarnitine, creatine, kynurenate, 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4), 1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4), 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4), sulfate, and γ-glutamylalanine. Conclusions Among patients with chronic kidney disease, an untargeted serum metabolomics platform identified multiple pathways and metabolites associated with dietary protein intake. Further research is necessary to characterize unknown compounds and to examine these metabolites in association with dietary protein intake among individuals without kidney disease. This trial was registered at clinicaltrials.gov as NCT03202914.

scholarly journals Effects of l-carnitine supplementation on milk production, litter gains and back-fat thickness in sows with a low energy and protein intake during lactation

2005 ◽  
Vol 93 (5) ◽  
pp. 717-721 ◽  
Author(s):  
A. Ramanau ◽  
H. Kluge ◽  
K. Eder
Keyword(s):  
Body Weight ◽  
Milk Production ◽  
Body Fat ◽  
Protein Intake ◽  
Negative Energy ◽  
Low Energy ◽  
Protein Diet ◽  
Carnitine Supplementation ◽  
Low Protein ◽  
Fat Thickness

The present study investigated the effect of l-carnitine supplementation during pregnancy (125 mg/d) and lactation (250 mg/d) on milk production, litter gains and back-fat thickness in sows fed a low-energy and low-protein diet during lactation. Sows supplemented with l-carnitine produced more milk on days 11 and 18 of lactation (+18 %; P<0·05) and had higher litter gains during suckling (+20 %; P<0·01) than control sows. Loss of body weight during lactation was similar in both groups, but sows supplemented with l-carnitine had a greater reduction of back-fat thickness (+45 %; P<0·05) during lactation than control sows. In conclusion, this study shows that l-carnitine increases milk production and litter gains in sows in a strongly negative energy and N balance, and enhances body fat mobilisation.

scholarly journals No protein intake compensation for insufficient indispensable amino acid intake with a low-protein diet for 12 days

2014 ◽  
Vol 11 (1) ◽  
pp. 38 ◽  
Author(s):  
Eveline A Martens ◽  
Sze-Yen Tan ◽  
Richard D Mattes ◽  
Margriet S Westerterp-Plantenga
Keyword(s):  
Amino Acid ◽  
Protein Intake ◽  
Protein Diet ◽  
Low Protein Diet ◽  
Acid Intake ◽  
Low Protein ◽  
Indispensable Amino Acid ◽  
Amino Acid Intake
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