{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T12:24:13Z","timestamp":1784204653702,"version":"3.55.0"},"reference-count":26,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Psychiatric manifestations in patients with tetrahydrobiopterin (BH4) defects are common, and may occur even with treatment of the underlying disorder. The neurobiological background of these conditions has been linked to abnormalities of neurotransmitters, such as dopamine, serotonin, norepinephrine, and gamma-aminobutyric acid. Here, we review the psychiatric profile of all patients with BH4 defects followed in the pediatric and adult metabolic clinics at our center. Three patients with autosomal recessive (AR) guanosine triphosphate cyclohydrolase (GTPCH) deficiency and three patients with 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency were reviewed.<\/jats:p><jats:p>All patients had behavioral disturbances and two had significant psychiatric comorbidities. These included attention deficit\/hyperactivity disorder, anxiety, depression, aggression, or oppositional defiant disorder. One patient with PTPS deficiency had a severe psychiatric presentation, requiring inpatient admission and temporary placement into foster care for intensive behavioral therapy. Another with AR GTPCH deficiency was diagnosed with aggressive behavioral dysregulation requiring intensive psychiatric treatment. Management of the psychiatric manifestations of BH4 defects can be challenging, due to lack of information and studies of interactions between psychiatric medications on the deficient neurotransmitters and their receptors in these conditions. Further studies are needed to establish safety and efficacy of these treatments.<\/jats:p>","DOI":"10.1055\/s-0042-1742323","type":"journal-article","created":{"date-parts":[[2022,1,31]],"date-time":"2022-01-31T06:06:42Z","timestamp":1643609202000},"page":"176-181","source":"Crossref","is-referenced-by-count":4,"title":["Psychiatric Manifestations in Patients with Biopterin Defects"],"prefix":"10.1055","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0582-0852","authenticated-orcid":false,"given":"Maksim","family":"Parfyonov","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Friedlander","sequence":"additional","affiliation":[{"name":"Division of Child and Adolescent Psychiatry, Department of Psychiatry, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Banno","sequence":"additional","affiliation":[{"name":"Division of Child and Adolescent Psychiatry, Department of Psychiatry, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean","family":"Elbe","sequence":"additional","affiliation":[{"name":"Division of Child and Adolescent Psychiatry, Department of Psychiatry, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada"},{"name":"Child & Adolescent Mental Health, Healthy Minds Centre, BC Children's Hospital, Vancouver, British Columbia, Canada"},{"name":"Department of Pharmacy, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2573-2489","authenticated-orcid":false,"given":"Gabriella","family":"Horvath","sequence":"additional","affiliation":[{"name":"Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada"},{"name":"Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, British Columbia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2022,1,28]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s10545-009-1067-2","article-title":"Disorders of biopterin metabolism","volume":"32","author":"N Longo","year":"2009","journal-title":"J Inherit Metab Dis"},{"issue":"08","key":"ref2","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/S1474-4422(11)70141-7","article-title":"The monoamine neurotransmitter disorders: an expanding range of neurological syndromes","volume":"10","author":"M A Kurian","year":"2011","journal-title":"Lancet Neurol"},{"issue":"10","key":"ref3","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/nrneurol.2015.172","article-title":"Monoamine neurotransmitter disorders\u2013clinical advances and future perspectives","volume":"11","author":"J Ng","year":"2015","journal-title":"Nat Rev Neurol"},{"key":"ref4","first-page":"bcr0320113927","article-title":"GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour","volume":"2011","author":"L Pan","year":"2011","journal-title":"BMJ Case Rep"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1136\/jnnp.2004.051664","article-title":"Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase 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Neurochemistry, efficacy, and clinical guidelines for use in children","volume":"45","author":"J H Newcorn","year":"1998","journal-title":"Pediatr Clin North Am"},{"issue":"01","key":"ref26","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1186\/s13023-020-01379-8","article-title":"Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies","volume":"15","author":"T Opladen","year":"2020","journal-title":"Orphanet J Rare Dis"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0042-1742323.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,5]],"date-time":"2024-11-05T14:21:36Z","timestamp":1730816496000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0042-1742323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,28]]},"references-count":26,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2022,7,15]]},"published-print":{"date-parts":[[2022,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0042-1742323","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,28]]}}}