Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1
Abstract
Introduction In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening. Discussion We present the case of a female newborn with prenatal diagnosis of hereditary tyrosinemia type 1 and clear identification of this disorder by succinylacetone measurement in cord blood and peripheral blood immediately after birth. Succinylacetone was 44 micromol/L (norm <5 micromol/L) and increased within 12 h to 87.5 micromol/L. Conclusion With the high toxic potential of downstream metabolites, these data clearly point out the necessity of early nitisinone treatment to prevent symptomatic disease.
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Babies with HT1 are rarely symptomatic in the first days of life.
“Although biochemical abnormalities may be identified shortly after birth [14], babies with HT1 are rarely symptomatic in the first days of life.”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [14]
Cites
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
LINDSTEDT, S. (1992) · The Lancet · doi:10.1016/0140-6736(92)92685-9 · Cited by 631 · see citing works
Tyrosinaemia type I and NTBC (2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione)
Holme, E., & Lindstedt, S. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005410820201 · Cited by 264 · see citing works
The pathophysiology and treatment of hereditary tyrosinemia type 1
Grompe, M. (2001) · Seminars in Liver Disease · doi:10.1055/s-2001-19035 · Cited by 167 · cited 2× · see citing works
“Hereditary tyrosinemia type 1 (HT1; or hepatorenal tyrosinemia, OMIM 276700) is an inherited, life-threatening disease caused by deficiency of fumarylacetoacetate hydroxylase, the last enzyme of the tyrosine degradation pathway [ 4 ] (Fig. 1). Patients with HT1 are usually asymptomatic at birth, but if left untreated,…”
BackgroundCombined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots
Turgeon, C., Magera, M. J., Allard, P., Tortorelli, S., Gavrilov, D., Oglesbee, D., Raymond, K., Rinaldo, P., & Matern, D. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2007.101949 · Cited by 145 · cited 3× · see citing works
“It is most often associated with common and benign transient hypertyrosinemia of the newborn [9, 12, 21 ].”
BackgroundMethodInfluentialExperience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1
Santra, S., & Baumann, U. (2008) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.9.7.1229 · Cited by 68 · cited 1× · see citing works
“In this case, it can prevent the development of liver disease long-term and significantly reduces the risk of developing hepatocellular carcinoma [ 17 ].”
BackgroundSander, J., Janzen, N., Peter, M., Sander, S., Steuerwald, U., Holtkamp, U., Schwahn, B., Mayatepek, E., Trefz, F. K., & Das, A. M. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2005.059790 · Cited by 62 · see citing works
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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
“Although biochemical abnormalities may be identified shortly after birth [14], babies with HT1 are rarely symptomatic in the first days of life.”
BackgroundSelf-citation
- Authors
- Schlump, J.-U., Mayatepek, E., & Spiekerkoetter, U.
- Affiliations
- Düsseldorf University Hospital (DE)
- Corresponding author
- Schlump, Jan-Ulrich
- Venue
- European Journal of Pediatrics
- Published
- 2009-10-08
- Volume
- 169
- Issue
- 5
- Pages
- 569-572
- ISSN
- 0340-6199 (ISSN-L)
- 1432-1076
- OpenAlex
- W2090467100
- Cited by
- 13
- References
- 6
- Citations by year
- 2023: 1 · 2018: 1 · 2017: 2 · 2013: 2 · 2012: 4
- FWCI
- 1.48
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- 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 › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
- Keywords
- tyrosinemia type I, succinylacetone, newborn screening, umbilical cord blood, nitisinone, prenatal diagnosis, early treatment, tyrosine catabolism, neonatal metabolic disorders
- MeSH terms
- Age Factors, alpha-Fetoproteins, Female, Fetal Blood, Heptanoates, Humans, Infant, Newborn, Prenatal Diagnosis, Tyrosinemias
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