Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
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.
Pons
Roser
R
First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Athens, Greece. rosepons@otenet.gr
Serrano
Mercedes
M
Ormazabal
Aida
A
Toma
Claudio
C
Garcia-Cazorla
Angels
A
Area
Estela
E
Ribasés
Marta
M
Kanavakis
Emmanuel
E
Drakaki
Kaliopi
K
Giannakopoulos
Aristotelis
A
Orfanou
Irene
I
Youroukos
Sotiris
S
Cormand
Bru
B
Artuch
Rafael
R
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
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