Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

Mov Disord. 2010 Jun 15;25(8):1086-90. doi: 10.1002/mds.23002.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis / methods
  • Dihydroxyphenylalanine / analogs & derivatives
  • Dihydroxyphenylalanine / cerebrospinal fluid
  • Greece / ethnology
  • Homovanillic Acid / cerebrospinal fluid
  • Humans
  • Hydroxyindoleacetic Acid / cerebrospinal fluid
  • Leucine / metabolism
  • Metabolic Diseases / cerebrospinal fluid
  • Metabolic Diseases / genetics*
  • Methoxyhydroxyphenylglycol / cerebrospinal fluid
  • Mutation / genetics*
  • Proline / analogs & derivatives
  • Proline / genetics
  • Tyrosine / analogs & derivatives
  • Tyrosine 3-Monooxygenase / deficiency*
  • Tyrosine 3-Monooxygenase / genetics*
  • Young Adult

Substances

  • Tyrosine
  • Methoxyhydroxyphenylglycol
  • Hydroxyindoleacetic Acid
  • Dihydroxyphenylalanine
  • Proline
  • Tyrosine 3-Monooxygenase
  • Leucine
  • prolinal
  • 3-methoxytyrosine
  • Homovanillic Acid