title: A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
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.
authors.affiliation: Department of Experimental Medicine, Sapienza Università di Roma, Rome, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Giovanniello
authors.forename: Dianella
authors.initials: D
authors.lastname: Claps
authors.forename: Carla
authors.initials: C
authors.lastname: Carducci
authors.forename: Claudia
authors.initials: C
authors.lastname: Carducci
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Italo
authors.initials: I
authors.lastname: Antonozzi
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
mesh_terms: D002675:Child, Preschool; D004421:Dystonia / Q000097:blood / Q000134:cerebrospinal fluid / Q000150:complications / Q000235:genetics; D005820:Genetic Testing; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D011388:Prolactin / Q000097:blood; D011596:Psychomotor Disorders / Q000097:blood / Q000134:cerebrospinal fluid / Q000150:complications / Q000235:genetics*; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency / Q000235:genetics*
chemical_list: D011388:Prolactin; D014446:Tyrosine 3-Monooxygenase; D006719:Homovanillic Acid