Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome

Pediatrics. 2022 Feb 1;149(2):e2021052886. doi: 10.1542/peds.2021-052886.

Abstract

An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of treatable DOPA-responsive dystonia.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Carbidopa / therapeutic use
  • Child
  • Dopamine Agonists / therapeutic use
  • Drug Combinations
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / metabolism*
  • Exome / physiology*
  • Exome Sequencing / methods
  • GTP Cyclohydrolase / deficiency*
  • GTP Cyclohydrolase / genetics*
  • Humans
  • Levodopa / therapeutic use
  • Male

Substances

  • Dopamine Agonists
  • Drug Combinations
  • carbidopa, levodopa drug combination
  • Levodopa
  • GCH1 protein, human
  • GTP Cyclohydrolase
  • Carbidopa

Supplementary concepts

  • Dystonia, Dopa-responsive