Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency

Neurology. 2012 Jan 31;78(5):e29-32. doi: 10.1212/WNL.0b013e3182452849.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Hydroxytryptophan / therapeutic use
  • Alcohol Oxidoreductases / deficiency*
  • Behavior
  • Benserazide / therapeutic use
  • Consanguinity
  • Developmental Disabilities / drug therapy
  • Developmental Disabilities / physiopathology*
  • Dopamine Agents / therapeutic use
  • Drug Combinations
  • Eye Movements / physiology
  • Female
  • Humans
  • Infant
  • Levodopa / therapeutic use
  • Movement Disorders / etiology
  • Muscle Hypotonia / etiology
  • Nervous System Diseases / drug therapy
  • Nervous System Diseases / physiopathology*
  • Neurotransmitter Agents / cerebrospinal fluid
  • Phenylketonurias / enzymology
  • Phenylketonurias / genetics
  • Treatment Outcome

Substances

  • Dopamine Agents
  • Drug Combinations
  • Neurotransmitter Agents
  • benserazide, levodopa drug combination
  • Levodopa
  • Benserazide
  • 5-Hydroxytryptophan
  • Alcohol Oxidoreductases
  • sepiapterin reductase