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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A12311%21RIV13-MZ0-00064165
rdf:type
skos:Concept n13:Vysledek
rdfs:seeAlso
http://pmr.cuni.cz/file/5624/PMR2012A0014.pdf
dcterms:description
Tyrosine hydroxylase deficiency manifests mainly in early childhood and includes two clinical phenotypes: an infantile progressive hypokinetic-rigid syndrome with dystonia (type A) and a neonatal complex encephalopathy (type B). The biochemical diagnostics is exclusively based on the quantitative determination of the neurotransmitters or their metabolites in cerebrospinal fluid (CSF). The implementation of neurotransmitter analysis in clinical praxis is necessary for early diagnosis and adequate treatment. Neurotransmitter metabolites in CSF were analyzed in 82 children (at the age 1 month to 17 years) with clinical suspicion for neurometabolic disorders using high performance liquid chromatography (HPLC) with electrochemical detection. The CSF level of homovanillic acid (HVA) was markedly decreased in three children (64, 79 and 94 nmol/l) in comparison to age related controls (lower limit 218-450 nmol/l). Neurological findings including severe psychomotor retardation, quadruspasticity and microcephaly accompanied with marked dystonia, excessive sweating in the first patient was compatible with the diagnosis of tyrosine hydroxylase (TH) deficiency (type B) and subsequent molecular analysis revealed two novel heterozygous mutations c.636A>C and c.1124G>C in the TH gene. The treatment with L-DOPA/carbidopa resulted in the improvement of dystonia. Magnetic resonance imaging studies in two other patients with microcephaly revealed postischaemic brain damage, therefore secondary HVA deficit was considered in these children. Diagnostic work-up in patients with neurometabolic disorders should include analysis of neurotransmitter metabolites in CSF. Tyrosine hydroxylase deficiency manifests mainly in early childhood and includes two clinical phenotypes: an infantile progressive hypokinetic-rigid syndrome with dystonia (type A) and a neonatal complex encephalopathy (type B). The biochemical diagnostics is exclusively based on the quantitative determination of the neurotransmitters or their metabolites in cerebrospinal fluid (CSF). The implementation of neurotransmitter analysis in clinical praxis is necessary for early diagnosis and adequate treatment. Neurotransmitter metabolites in CSF were analyzed in 82 children (at the age 1 month to 17 years) with clinical suspicion for neurometabolic disorders using high performance liquid chromatography (HPLC) with electrochemical detection. The CSF level of homovanillic acid (HVA) was markedly decreased in three children (64, 79 and 94 nmol/l) in comparison to age related controls (lower limit 218-450 nmol/l). Neurological findings including severe psychomotor retardation, quadruspasticity and microcephaly accompanied with marked dystonia, excessive sweating in the first patient was compatible with the diagnosis of tyrosine hydroxylase (TH) deficiency (type B) and subsequent molecular analysis revealed two novel heterozygous mutations c.636A>C and c.1124G>C in the TH gene. The treatment with L-DOPA/carbidopa resulted in the improvement of dystonia. Magnetic resonance imaging studies in two other patients with microcephaly revealed postischaemic brain damage, therefore secondary HVA deficit was considered in these children. Diagnostic work-up in patients with neurometabolic disorders should include analysis of neurotransmitter metabolites in CSF.
dcterms:title
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
skos:prefLabel
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
skos:notation
RIV/00064165:_____/12:12311!RIV13-MZ0-00064165
n13:predkladatel
n18:ico%3A00064165
n3:aktivita
n11:I n11:P
n3:aktivity
I, P(NS10561)
n3:cisloPeriodika
2
n3:dodaniDat
n9:2013
n3:domaciTvurceVysledku
n10:5315263 n10:6270875 n10:1731696 n10:9185283 n10:1045261 n10:4540344
n3:druhVysledku
n8:J
n3:duvernostUdaju
n16:S
n3:entitaPredkladatele
n17:predkladatel
n3:idSjednocenehoVysledku
154797
n3:idVysledku
RIV/00064165:_____/12:12311
n3:jazykVysledku
n4:eng
n3:klicovaSlova
Tyrosine hydroxylase; cerebrospinal fluid; liquid chromatography; neurotransmitter disorder
n3:klicoveSlovo
n12:Tyrosine%20hydroxylase n12:liquid%20chromatography n12:cerebrospinal%20fluid n12:neurotransmitter%20disorder
n3:kodStatuVydavatele
CZ - Česká republika
n3:kontrolniKodProRIV
[76048F389998]
n3:nazevZdroje
Prague Medical Report
n3:obor
n14:FG
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
9
n3:projekt
n15:NS10561
n3:rokUplatneniVysledku
n9:2012
n3:svazekPeriodika
113
n3:tvurceVysledku
Krijt, Jakub Klement, Petr Vinšová, Kamila Zeman, Jiří Rozsypalová, Eva Tesařová, Markéta Honzík, Tomáš Hansíková, Hana Szentiványi, Karol
s:issn
1214-6994
s:numberOfPages
11