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

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.

Chronic-Onset Hereditary Tyrosinemia Type I

2001 ◽  
Vol 20 (3) ◽  
pp. 241-244
Author(s):  
John Pohl ◽  
Catherine Hughes ◽  
Michael Farrell
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Extensive changes in liver gene expression induced by Hereditary Tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

2003 ◽  
Vol 39 (6) ◽  
pp. 901-909 ◽  
Author(s):  
Marjanka C Luijerink ◽  
Saskia M.M Jacobs ◽  
Ellen A.C.M van Beurden ◽  
Leander P Koornneef ◽  
Leo W.J Klomp ◽  
...  
Keyword(s):  
Gene Expression ◽  
Type I ◽  
Tyrosinemia Type I ◽  
Liver Gene ◽  
Hereditary Tyrosinemia

scholarly journals Hepatocellular targeted α-tocopherol based pH sensitive galactosylated lipids: design, synthesis and transfection studies

MedChemComm ◽  
2018 ◽  
Vol 9 (2) ◽  
pp. 264-274 ◽  
Author(s):  
Venkanna Muripiti ◽  
Brijesh Lohchania ◽  
Srujan Kumar Marepally ◽  
Srilakshmi V. Patri
Keyword(s):  
Gene Delivery ◽  
Genetic Disorders ◽  
Ph Sensitive ◽  
Type I ◽  
Design Synthesis ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

Receptor mediated gene delivery to the liver offers advantages in treating genetic disorders such as hemophilia and hereditary tyrosinemia type I (HTI).

scholarly journals Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

1993 ◽  
Vol 91 (4) ◽  
pp. 1816-1821 ◽  
Author(s):  
E A Kvittingen ◽  
H Rootwelt ◽  
P Brandtzaeg ◽  
A Bergan ◽  
R Berger
Keyword(s):  
Type I ◽  
Tyrosinemia Type I ◽  
Hereditary Tyrosinemia

scholarly journals TEPUNG DAUN SINGKONG (Monihot utilissima) TUA SEBAGAI SUMBER PROTEIN ALTERNATIF DALAM FORMULA PAKAN IKAN LELE (Clarias gariepinus)

2016 ◽  
Vol 1 (1) ◽  
pp. 1
Author(s):  
Syahrizal Syahrizal ◽  
Muarofah Ghofur ◽  
. Safratilofa ◽  
Rahmat Sam
Keyword(s):  
Survival Rate ◽  
Fish Meal ◽  
Clarias Gariepinus ◽  
African Catfish ◽  
Fish Feed ◽  
Daily Growth ◽  
Protein Substitute ◽  
Feed Formulation ◽  
Cassava Leaves ◽  
Alternative Protein

AbstractThe feed as a source of energy for the growth of fish is a component of the most important costs 40-89% and the quality should be good. The solution is through research. Research in the form of meal cassava leaves (Monihot utilissima) parents as a source of alternative protein substitute for fish meal in feed formulation catfish (Clarias gariepinus). The design used Complete Random Design with 4 treatments and 3 repetitions. The results showed that for the growth and the survival between treatments were not significant (P <0.5), meaning that all treatments were no differences can be categorized and feed ingredients of flour cassava leaves can replace most of the presence of meal fish  in fish feed formulas African catfish. Growth of the best catfish are on treatment A (55% meal cassava leaf: 00% fish meal) with daily growth of 8.27 grams was 2.61% and the B (40%% meal cassava leaves: 15% meal fish) 5.28 gram with daily growth is 1.86%, followed by C (15%%  meal cassava leaves: 15% meal fish ) 1:51% and D (0% meal cassava leaves : 55% meal fish ) 1:33%. Catfish survival rate was not significant (P <0.5), and relatively equally well A (96.17%), B (94.77) and C (95.92) and the best in treatment for D (96.37 ). As users are advised to wear formulations in treatment B (40% meal fish and 15%  meal cassava leaves old). Keywords: Catfish, Ffeed, Meal fish, Meal cassava leaves AbstrakPakan sebagai sumber energi bagi pertumbuhan ikan  merupakan komponen biaya yang paling besar 40-89%  dan kualitasnya harus baik. Solusinya melalui penelitian. Penelitian berupa tepung daun  singkong (Monihot utilissima) tua sebagai sumber protein alternatif penganti tepung ikan dalam formulasi pakan ikan lele (Clarias gariepinus). Rancangan digunakan Rancangan Acak Lengkap dengan 4 perlakuan dan 3 kali ulangan. Hasil penelitian menunjukan bahwa untuk pertumbuhan dan kelulusan hidup antar perlakuan tidak signifikan (P < 0,5), artinya semua perlakuan  tidak ada perbedaan dan dapat dikatagorikan bahan pakan dari tepung daun singkong dapat mengantikan sebagian keberadaan tepung ikan dalam formula pakan ikan lele dumbo. Pertumbuhan ikan lele terbaik terdapat pada perlakuan A (55% tepung daun singkong : 00% tepung ikan) 8,27 gram dengan pertumbuhan harian adalah 2.61% dan  pada B (40%  % tepung daun singkong : 15% tepung ikan) 5,28 gram dengan pertumbuhan harian adalah 1.86%, diikuti C (15% % tepung daun singkong :15% tepung ikan) 1.51% dan D (0 % tepung daun singkong : 55% tepung ikan) 1.33%. Tingkat kelangsungan hidup ikan lele tidak signifikan (P < 0,5), dan  relatif sama baiknya A (96,17%), B (94,77) dan C (95,92) dan terbaik pada perlakuan untuk D (96,37). Sebagai pengguna disarankan memakai formulasi pada perlakuan B (40% Tepung ikan dan 15% tepung daun singkong tua). Kata kunci: Ikan lele, Pakan, Tepung ikan, Tepung  Daun Singkong Tua

scholarly journals A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

2016 ◽  
Vol 33 (3) ◽  
pp. 370-372 ◽  
Author(s):  
Habibe Koc Ucar ◽  
Gokhan Tumgor ◽  
Deniz Kor ◽  
Fatih Kardas ◽  
Neslihan Onenli Mungan
Keyword(s):  
Case Report ◽  
Type I ◽  
Rare Association ◽  
Tyrosinemia Type I

scholarly journals Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

2009 ◽  
Vol 55 (12) ◽  
pp. 2207-2213 ◽  
Author(s):  
Barbara W Adam ◽  
Timothy H Lim ◽  
Elizabeth M Hall ◽  
W Harry Hannon
Keyword(s):  
Newborn Screening ◽  
Proficiency Testing ◽  
False Negative ◽  
Dried Blood Spots ◽  
Screening Tests ◽  
Type I ◽  
Primary Metabolite ◽  
Screening Practices ◽  
Tyrosinemia Type I ◽  
Stable Performance

Abstract Background: Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I—an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUAC-enriched DBSs to compare and evaluate the performance of these screening tests. Methods: We prepared sets of DBS materials enriched with predetermined SUAC concentrations and distributed samples of these materials, along with a screening practices questionnaire, to laboratories that perform SUAC tests. We compared their reported SUAC concentrations and questionnaire responses to identify screening practices that affect SUAC test outcomes. Results: Data from 2 pilot surveys showed large differences among laboratories in SUAC recoveries, reproducible within-laboratory recoveries, and stable performance of the DBS materials. Results from 257 proficiency test analyses contained a total of 6 false-negative misclassifications. Reported recoveries of added SUAC ranged from 0 to &gt;200%. Low-biased SUAC recoveries were associated with 1 method used by 5 laboratories. All laboratories that reported SUAC recoveries ≥100% used DBS matrix calibrators. Conclusions: The wide ranges of SUAC concentrations reported for pilot and proficiency testing specimens demonstrate a need to harmonize quantitative results among laboratories. Although DBS matrix calibrators are important for optimizing SUAC recoveries, the preparation of these calibrators is not standardized among laboratories. Certified DBS-based SUAC calibrators are needed for accuracy and harmonization.

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

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