Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

Pediatr Neurol. 2006 Nov;35(5):308-13. doi: 10.1016/j.pediatrneurol.2006.05.006.


Sepiapterin reductase deficiency has recently been recognized as a treatable, inborn error of pterin metabolism. This investigation is the first long-term clinical study demonstrating impressive positive, long-term effects of treatment in two cases of sepiapterin reductase deficiency after 2 and 5 years of treatment respectively. The two patients were not diagnosed before 7 and 13 years of age. These results highlight the importance of cerebrospinal fluid neurotransmitter investigations in childhood encephalopathy, in cases of unexplained early-onset neurologic handicap. Such a widened approach to the diagnostic efforts in early-onset encephalopathy with motor delay during childhood is important, as we have at our disposal a simple and effective treatment.

Publication types

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

MeSH terms

  • 5-Hydroxytryptophan / administration & dosage
  • Adolescent
  • Alcohol Oxidoreductases / deficiency*
  • Antidepressive Agents, Second-Generation / administration & dosage
  • Carbidopa / administration & dosage
  • Child
  • Dopamine Agents / administration & dosage
  • Drug Administration Schedule
  • Drug Therapy, Combination
  • Female
  • Follow-Up Studies
  • Humans
  • Levodopa / administration & dosage
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / drug therapy*
  • Treatment Outcome


  • Antidepressive Agents, Second-Generation
  • Dopamine Agents
  • Levodopa
  • 5-Hydroxytryptophan
  • Alcohol Oxidoreductases
  • sepiapterin reductase
  • Carbidopa