Document Detail


Early initiation of L-dopa therapy enables stable development of executive function in tetrahydrobiopterin (BH4) deficiency.
MedLine Citation:
PMID:  17489812     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Executive function (EF) has been presumed to be mediated by the dopaminergic system in the prefrontal cortex. However, little is known about the early development of this function and the roles dopamine plays in it. Tetrahydrobiopterin (BH4) deficiencies are genetic disorders affecting catecholamine and serotonin biosynthesis which, if untreated, result in motor and cognitive symptoms including impairment of EF. A comprehensive neuropsychological test battery was administered to six participants with BH4 deficiency (four males, two females, mean Full-scale intelligence quotient [FIQ] 63.8 [SD 14.7]); all were on replacement therapy with L-dopa and BH4, but time of initiation of treatment varied. Age range (median) was 28 days to 41 years (2y 6mo) at initiation of treatment and 10 to 47 years (19y) at follow-up. On non-EF tests, performance agreed with those of IQ-matched controls (four males, two females; mean age 16y 6mo [SD 6mo]; mean FIQ 62.3 [SD 13.4]). On EF tests those who initiated treatment after 2 years 6 months of age performed poorly. In patients with BH4 deficiency, replacement therapy should be started in the first weeks or months of life. Patients diagnosed before the age of 2 years 6 months obtain normal EF, which suggests dopamine may play a critical role in ensuring stable development of EF in early life.
Authors:
Yoko Tanaka; Motoichiro Kato; Taro Muramatsu; Fumie Saito; Seiji Sato; Nobutake Matsuo; Haruo Shintaku; Yoshiyuki Okano; Hiroshi Kondo; Tatsushi Nukazawa
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  49     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-05-10     Completed Date:  2007-05-24     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  372-6     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Tokyo Dental College, Ichikawa General Hospital, Chiba, Japan.
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MeSH Terms
Descriptor/Qualifier:
5-Hydroxytryptophan / administration & dosage
Adolescent
Adult
Biopterin / administration & dosage,  analogs & derivatives*,  deficiency
Child
Female
Follow-Up Studies
Humans
Levodopa / administration & dosage*
Male
Middle Aged
Neuropsychological Tests*
Phosphorus-Oxygen Lyases / administration & dosage,  deficiency
Problem Solving / drug effects*
Treatment Outcome
Wechsler Scales
Chemical
Reg. No./Substance:
0/Levodopa; 17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin; 56-69-9/5-Hydroxytryptophan; EC 4.6.-/Phosphorus-Oxygen Lyases; EC 4.6.10/6-pyruvoyltetrahydropterin synthase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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