A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy

Teresa Giovanniello, Dianella Claps, Carla Carducci, Claudia Carducci, Nenad Blau, Federico Vigevano, Italo Antonozzi, Vincenzo Leuzzi

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)523-525
Number of pages3
JournalJournal of Child Neurology
Volume27
Issue number4
DOIs
Publication statusPublished - 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

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