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A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
- Source :
-
Journal of child neurology [J Child Neurol] 2012 Apr; Vol. 27 (4), pp. 523-5. Date of Electronic Publication: 2011 Sep 22. - Publication Year :
- 2012
-
Abstract
- We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs, hypokinesia) due to tyrosine hydroxylase deficiency. High blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis. Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C>T(p.P251L) and c.887G>A(p.R296Q] harbored by the father and c.836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.
- Subjects :
- Child, Preschool
Dystonia blood
Dystonia cerebrospinal fluid
Dystonia complications
Dystonia genetics
Genetic Testing
Homovanillic Acid cerebrospinal fluid
Humans
Male
Prolactin blood
Psychomotor Disorders blood
Psychomotor Disorders cerebrospinal fluid
Psychomotor Disorders complications
Tyrosine 3-Monooxygenase deficiency
Mutation, Missense genetics
Psychomotor Disorders genetics
Tyrosine 3-Monooxygenase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1708-8283
- Volume :
- 27
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of child neurology
- Publication Type :
- Academic Journal
- Accession number :
- 21940685
- Full Text :
- https://doi.org/10.1177/0883073811420717