Disorders of Tyrosine Metabolism
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These toxic metabolites cause severe disruption of intracellular metabolism of the liver and kidney.
“These are responsible for severe disruption of intracellular metabolism of the liver and kidney.”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [1]
HT1 is caused by a defect in fumarylacetoacetase (FAH), the final enzyme in tyrosine degradation.
“Tyrosinaemia type 1 (HT1) is caused by a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2, Figure 1).”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [1]
Patients with HT1 may present in infancy, childhood or as adults.
“Patients may present in infancy, childhood or as adults [1,8].”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [1]
In HT1, toxic metabolites including succinylacetone, maleylacetoacetate and fumarylacetoacetate are formed as a result of the metabolic block.
“As a result of the metabolic block toxic metabolites are formed including succinylacetone, maleylacetoacetate and fumarylacetoacetate.”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [1]
The risk of developing HCC in HT1 is not easily assessed but the later the diagnosis is made the greater the risk of hepatocellular carcinoma.
“The risk of developing HCC is not easily assessed but the later the diagnosis is made the greater the risk of hepatocellular carcinoma (see Table 18.1 in reference 1).”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [1]
Cites
Hall, M. G., Wilks, M. F., Provan, W. M., Eksborg, S., & Lumholtz, B. (2001) · British Journal of Clinical Pharmacology · doi:10.1046/j.0306-5251.2001.01421.x · Cited by 110 · see citing works
Cardiomyopathy in tyrosinaemia type I is common but usually benign
Arora, N., Stumper, O., Wright, J., Kelly, D. A., & McKiernan, P. J. (2006) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-006-0203-5 · Cited by 48 · see citing works
Self-citation
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Recommendations for the management of tyrosinaemia type 1
de Laet, C., Dionisi-Vici, C., Leonard, J. V., McKiernan, P., Mitchell, G., Monti, L., de Baulny, H. O., Pintos-Morell, G., & Spiekerkötter, U. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-8 · Cited by 227 · see citing works
Self-citation
- Authors
- Chakrapani, A., Gissen, P., & McKiernan, P.
- Affiliations
- Birmingham Children's Hospital (GB)
- Venue
- Inborn Metabolic Diseases
- Publisher
- Springer Berlin Heidelberg
- Published
- 2012
- Pages
- 265-276
- OpenAlex
- W4250081112
- Cited by
- 17
- References
- 2
- Citations by year
- 2024: 1 · 2022: 2 · 2021: 3 · 2019: 3 · 2017: 4 · 2016: 1 · 2014: 2
- FWCI
- 1.86
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- Springer eBooks (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- tyrosine metabolism disorders, Richner-Hanhart syndrome, alkaptonuria, liver disease, renal tubular dysfunction, rickets, keratitis, metabolic acidosis, osteoarthritis, intellectual disability
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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