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Hereditary Tyrosinemia

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Cover of 'Hereditary Tyrosinemia'

Table of Contents

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    Book Overview
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    Chapter 1 Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean
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    Chapter 2 Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
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    Chapter 3 Molecular Aspects of the FAH Mutations Involved in HT1 Disease
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    Chapter 4 Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1
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    Chapter 5 Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
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    Chapter 6 The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec
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    Chapter 7 Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom
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    Chapter 8 NTBC and Correction of Renal Dysfunction
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    Chapter 9 Liver Cancer in Tyrosinemia Type 1
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    Chapter 10 Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
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    Chapter 11 Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening
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    Chapter 12 Tyrosinemia Type I in Japan: A Report of Five Cases
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    Chapter 13 Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
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    Chapter 14 Hepatorenal Tyrosinemia in Mexico: A Call to Action
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    Chapter 15 Hereditary Tyrosinemia Type 1 in Turkey
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    Chapter 16 From Weed Killer to Wonder Drug
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    Chapter 17 The Québec NTBC Study
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    Chapter 18 Dietary Considerations in Tyrosinemia Type I
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    Chapter 19 Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint
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    Chapter 20 Fah Knockout Animals as Models for Therapeutic Liver Repopulation
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    Chapter 21 Gene Therapy in Tyrosinemia: Potential and Pitfalls
Attention for Chapter 18: Dietary Considerations in Tyrosinemia Type I
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Chapter title
Dietary Considerations in Tyrosinemia Type I
Chapter number 18
Book title
Hereditary Tyrosinemia
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-55780-9_18
Pubmed ID
Book ISBNs
978-3-31-955779-3, 978-3-31-955780-9
Authors

Francjan J. van Spronsen, Margreet van Rijn, Uta Meyer, Anibh M. Das

Abstract

Since the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), life expectancy of HT1 patients greatly improved. However, due to treatment with NTBC, tyrosine concentrations greatly increase. As a consequence to possible neurocognitive problems, the main objective of dietary therapy in HT1 is to provide adequate nutrition allowing normal growth and development while strictly controlling tyrosine levels in blood (and tissues). Although no well-defined target levels exist, tyrosine concentrations below 400 μmol/L are considered to be safe. To achieve this aim a diet restricted in natural protein and supplemented with a special tyrosine and phenylalanine-free amino acid mixture is necessary.Dietary management could be strenuous at diagnosis due to several different problems. If vomiting and diarrhea are a major issue at diagnosis, frequent feeding with additional energy from low protein food is needed for catch-up growth. Initiation of dietary treatment is usually easier if diagnosis is directly after birth. Based on newborn screening when infants are still reasonable healthy. If presenting clinically infants may experience serious difficulties in taking the amino acid mixtures probably due to feeding problems while when presenting after some 2-3 months taste development and the difference in the taste of amino acid mixtures compared to regular formula and breast milk increase difficulties with the treatment.Following a dietary treatment is even harder than taking some medicine. Older children and adolescents often relax the diet and at some age become reluctant to stick to a strict regimen. Therefore, adequate training and information should be given to the patients and the family at regular intervals. To achieve this, a multidisciplinary approach involving pediatricians/physicians, dieticians, psychologists and social workers is an asset for the care of patients with HT1.

Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 25%
Other 3 13%
Student > Ph. D. Student 2 8%
Student > Postgraduate 2 8%
Student > Doctoral Student 2 8%
Other 4 17%
Unknown 5 21%
Readers by discipline Count As %
Medicine and Dentistry 10 42%
Agricultural and Biological Sciences 3 13%
Nursing and Health Professions 3 13%
Psychology 1 4%
Social Sciences 1 4%
Other 1 4%
Unknown 5 21%