title: Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.
abstract: 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.
authors.affiliation: Service de Neuropédiatrie, CHU Montpellier, France. Bernard.Echenne@USherbrooke.ca
authors.forename: Bernard
authors.initials: B
authors.lastname: Echenne
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.forename: Birgit
authors.initials: B
authors.lastname: Assmann
authors.forename: Thomas
authors.initials: T
authors.lastname: Lutz
authors.forename: Johann M
authors.initials: JM
authors.lastname: Penzien
authors.forename: Beat
authors.initials: B
authors.lastname: Thöny
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: D006916:5-Hydroxytryptophan / Q000008:administration & dosage; D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D018687:Antidepressive Agents, Second-Generation / Q000008:administration & dosage; D002230:Carbidopa / Q000008:administration & dosage; D002648:Child; D015259:Dopamine Agents / Q000008:administration & dosage; D004334:Drug Administration Schedule; D004359:Drug Therapy, Combination; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D018687:Antidepressive Agents, Second-Generation; D015259:Dopamine Agents; D007980:Levodopa; D006916:5-Hydroxytryptophan; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase; D002230:Carbidopa