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Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency
Szentiványi K., Hansíková H., Krijt J., Vinšová K., Tesařová M., Rozsypalová E., Klement P., Zeman J., Honzík T.
Language English Country Czech Republic
Document type Case Reports
Grant support
NS10561
MZ0
CEP Register
Digital library NLK
Full text - Article
Source
NLK
Directory of Open Access Journals
from 2012
Medline Complete (EBSCOhost)
from 2012-01-01
- MeSH
- Amplified Fragment Length Polymorphism Analysis methods utilization MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Financing, Organized MeSH
- Carbidopa adverse effects therapeutic use MeSH
- Disease Attributes MeSH
- Levodopa administration & dosage adverse effects therapeutic use MeSH
- Humans MeSH
- Brain Diseases, Metabolic diagnosis etiology genetics MeSH
- Cerebrospinal Fluid metabolism MeSH
- DNA Mutational Analysis methods utilization MeSH
- Neurotransmitter Agents isolation & purification deficiency MeSH
- Tyrosine 3-Monooxygenase isolation & purification deficiency MeSH
- Chromatography, High Pressure Liquid methods utilization MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
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
References provided by Crossref.org
Obsahuje 1 tabulku
Bibliography, etc.Literatura
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- $a 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
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