Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia / Rosana H., Scola; Carducci, Carla; Vanise G., Amaral; Paulo J., Lorenzoni; Helio A. G., Teive; Giovanniello, Teresa; Lineu C., Werneck. - In: ARQUIVOS DE NEURO-PSIQUIATRIA. - ISSN 0004-282X. - 65:4 B(2007), pp. 1224-1227. [10.1590/s0004-282x2007000700026]
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
CARDUCCI, Carla;GIOVANNIELLO, TERESA;
2007
Abstract
Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
