title: Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
abstract: We present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunction. Cerebrospinal fluid analysis disclosed reduced dopamine metabolites and normal pterins. Response to levodopa was favorable though not dramatic. All patients were homozygous for a previously reported mutation (p.L236P). SNP haplotype analysis was consistent with a common ancestral mutation, thus indicating a founder effect in Greek patients with TH deficiency.
authors.affiliation: First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece. rosepons@otenet.gr
authors.forename: Roser
authors.initials: R
authors.lastname: Pons
authors.forename: Mercedes
authors.initials: M
authors.lastname: Serrano
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazabal
authors.forename: Claudio
authors.initials: C
authors.lastname: Toma
authors.forename: Angels
authors.initials: A
authors.lastname: Garcia-Cazorla
authors.forename: Estela
authors.initials: E
authors.lastname: Area
authors.forename: Marta
authors.initials: M
authors.lastname: Ribasés
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Kaliopi
authors.initials: K
authors.lastname: Drakaki
authors.forename: Aristotelis
authors.initials: A
authors.lastname: Giannakopoulos
authors.forename: Irene
authors.initials: I
authors.lastname: Orfanou
authors.forename: Sotiris
authors.initials: S
authors.lastname: Youroukos
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D004295:Dihydroxyphenylalanine / Q000031:analogs & derivatives / Q000134:cerebrospinal fluid; D006115:Greece / Q000208:ethnology; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D007930:Leucine / Q000378:metabolism; D008659:Metabolic Diseases / Q000134:cerebrospinal fluid / Q000235:genetics*; D008734:Methoxyhydroxyphenylglycol / Q000134:cerebrospinal fluid; D009154:Mutation / Q000235:genetics*; D011392:Proline / Q000031:analogs & derivatives / Q000235:genetics; D014443:Tyrosine / Q000031:analogs & derivatives; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency* / Q000235:genetics*; D055815:Young Adult
chemical_list: D014443:Tyrosine; D008734:Methoxyhydroxyphenylglycol; D006897:Hydroxyindoleacetic Acid; D004295:Dihydroxyphenylalanine; D011392:Proline; D014446:Tyrosine 3-Monooxygenase; D007930:Leucine; C046026:prolinal; C008404:3-methoxytyrosine; D006719:Homovanillic Acid