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 |
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
Fingerprint Dive into the research topics of 'A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy'. Together they form a unique fingerprint.
Cite this
Giovanniello, T., Claps, D., Carducci, C., Carducci, C., Blau, N., Vigevano, F., Antonozzi, I., & Leuzzi, V. (2012). A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. Journal of Child Neurology, 27(4), 523-525. https://doi.org/10.1177/0883073811420717