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.
| Original language | English |
|---|---|
| Pages (from-to) | 523-525 |
| Number of pages | 3 |
| Journal | Journal of Child Neurology |
| Volume | 27 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2012 |
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Keywords
- autosomal recessive dopa-responsive dystonia
- biogenic amine disorders
- early-onset encephalopathy
- tyrosine hydroxylase deficiency
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
Cite this
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. / Giovanniello, Teresa; Claps, Dianella; Carducci, Carla; Carducci, Claudia; Blau, Nenad; Vigevano, Federico; Antonozzi, Italo; Leuzzi, Vincenzo.
In: Journal of Child Neurology, Vol. 27, No. 4, 04.2012, p. 523-525.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy
AU - Giovanniello, Teresa
AU - Claps, Dianella
AU - Carducci, Carla
AU - Carducci, Claudia
AU - Blau, Nenad
AU - Vigevano, Federico
AU - Antonozzi, Italo
AU - Leuzzi, Vincenzo
PY - 2012/4
Y1 - 2012/4
N2 - 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.
AB - 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.
KW - autosomal recessive dopa-responsive dystonia
KW - biogenic amine disorders
KW - early-onset encephalopathy
KW - tyrosine hydroxylase deficiency
UR - http://www.scopus.com/inward/record.url?scp=84859360032&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84859360032&partnerID=8YFLogxK
U2 - 10.1177/0883073811420717
DO - 10.1177/0883073811420717
M3 - Article
C2 - 21940685
AN - SCOPUS:84859360032
VL - 27
SP - 523
EP - 525
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 4
ER -