A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)

1999 ◽  
Vol 22 (4) ◽  
pp. 364-373 ◽  
Author(s):  
R. A. Wevers ◽  
J. F. de Rijk-van Andel ◽  
C. Bräutigam ◽  
B. Geurtz ◽  
L. P. W. J. van den Heuvel ◽  
...  
Keyword(s):  
Tyrosine Hydroxylase ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Hydroxylase Deficiency ◽  
Tyrosine Hydroxylase Deficiency

TYROSINE HYDROXYLASE DEFICIENCY

The Lancet ◽  
1971 ◽  
Vol 297 (7708) ◽  
pp. 1050-1051 ◽  
Author(s):  
WilliamE. Martin
Keyword(s):  
Tyrosine Hydroxylase ◽  
Hydroxylase Deficiency ◽  
Tyrosine Hydroxylase Deficiency

Tyrosine Hydroxylase Deficiency Presenting with a Biphasic Clinical Course

2007 ◽  
Vol 38 (4) ◽  
pp. 213-215 ◽  
Author(s):  
T. Giovanniello ◽  
V. Leuzzi ◽  
C. Carducci ◽  
C. Carducci ◽  
M. Sabato ◽  
...  
Keyword(s):  
Tyrosine Hydroxylase ◽  
Clinical Course ◽  
Hydroxylase Deficiency ◽  
Tyrosine Hydroxylase Deficiency

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

2015 ◽  
Vol 31 (3) ◽  
pp. 705-709 ◽  
Author(s):  
Alba Tristán-Noguero ◽  
Héctor Díez ◽  
Cristina Jou ◽  
Mercè Pineda ◽  
Aida Ormazábal ◽  
...  
Keyword(s):  
Tyrosine Hydroxylase ◽  
Fetal Brain ◽  
Severe Form ◽  
Hydroxylase Deficiency ◽  
Tyrosine Hydroxylase Deficiency

O61 – 1802 Tyrosine hydroxylase deficiency. The Greek experience

2013 ◽  
Vol 17 ◽  
pp. S19-S20 ◽  
Author(s):  
R Pons ◽  
D Syrengelas ◽  
A Gkika ◽  
A Dinopoulos ◽  
I Orfanou ◽  
...  
Keyword(s):  
Tyrosine Hydroxylase ◽  
Hydroxylase Deficiency ◽  
Tyrosine Hydroxylase Deficiency

scholarly journals Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency

2012 ◽  
Vol 113 (2) ◽  
pp. 136-146 ◽  
Author(s):  
K. Szentiványi ◽  
H. Hansíková ◽  
J. Krijt ◽  
K. Vinšová ◽  
M. Tesařová ◽  
...  
Keyword(s):  
Tyrosine Hydroxylase ◽  
Psychomotor Retardation ◽  
Type B ◽  
Hydroxylase Deficiency ◽  
Excessive Sweating ◽  
Adequate Treatment ◽  
Age Related ◽  
Neurometabolic Disorders ◽  
Tyrosine Hydroxylase Deficiency ◽  
Neurotransmitter Metabolites

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 theTHgene. 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.

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