First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10369684" target="_blank" >RIV/00216208:11110/17:10369684 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/17:10369684
Result on the web
<a href="http://dx.doi.org/10.2298/SARH161013084K" target="_blank" >http://dx.doi.org/10.2298/SARH161013084K</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.2298/SARH161013084K" target="_blank" >10.2298/SARH161013084K</a>
Alternative languages
Result language
angličtina
Original language name
First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene
Original language description
Introduction Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene are presently reported on the Human Genome Mutation Database. To date, no molecular genetic defects of HT1 in Macedonia have been described. Case outline A female infant two and a half months old presented with failure to thrive, anemia, edemas, and severe coagulation disturbances. The diagnosis of HT1 was based on high levels of serum alpha-fetoprotein, increased serum tyrosine, and positive succinylacetone in urine. Nitisinone treatment with tyrosine-restriction diet was immediately introduced. The patient, currently aged five years, has normal growth, psychomotor development, and no focal lesions on abdominal MRI. A screening of the FAH gene revealed two heterozygous mutations - c.[1A>G];[784T>A]. The mutation c.784T>A is a novel one (p.Trp262Arg), and was predicted to be the cause of the disease by an in silico analysis. Conclusion To date, this case is the first and only child with HT1 successfully treated with nitisinone in our country. Also, this is the first report of an HT1 patient caused by the c.784T>A mutation.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Srpski Arhiv Za Celokupno Lekarstvo
ISSN
0370-8179
e-ISSN
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Volume of the periodical
145
Issue of the periodical within the volume
9-10
Country of publishing house
RS - THE REPUBLIC OF SERBIA
Number of pages
4
Pages from-to
530-533
UT code for WoS article
000423469500017
EID of the result in the Scopus database
2-s2.0-85038360441