{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:04:53Z","timestamp":1790485493606,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T00:00:00Z","timestamp":1283472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive guanosine triphosphate cyclohydrolase (GTPCH) type I deficiency is characterized by complex neurological dysfunction. Patients are usually diagnosed with hyperphenylalaninemia in newborn screening. We describe two unrelated patients without hyperphenylalaninemia who presented during early infancy with severe motor retardation, hypokinesia, and truncal hypotonia. CSF homovanillic acid and 5\u2010hydroxyindoleacetic acid as well as tetrahydrobiopterin and neopterin were decreased. Diagnosis of recessive GTPCH deficiency was confirmed biochemically, and a novel homozygous mutation was identified in one patient and a compound\u2010heterozygous mutation of GCH1 in the other. Treatment with Levodopa\/Carbidopa resulted in striking clinical improvement, with age\u2010appropriate development at follow\u2010up at 6 years. Autosomal recessive GTPCH deficiency should be considered in infants with severe truncal hypotonia even if hyperphenylalaninemia or classical extrapyramidal symptoms are missing. Neurotransmitter analysis followed by enzyme or mutation analysis can confirm the diagnosis, and Levodopa treatment should be started at high\u2010doses. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23329","type":"journal-article","created":{"date-parts":[[2010,9,5]],"date-time":"2010-09-05T02:20:15Z","timestamp":1283653215000},"page":"157-161","source":"Crossref","is-referenced-by-count":52,"title":["Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia"],"prefix":"10.1002","volume":"26","author":[{"given":"Thomas","family":"Opladen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friederike","family":"H\u00f6rster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010B\u00e4rbel","family":"Hinz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Neidhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,3]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj3470001"},{"key":"e_1_2_7_3_2","first-page":"725","volume-title":"The metabolic and molecular bases of inherited disease","author":"Blau N","year":"2001"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.3.477"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.01.003"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000044049.99690.AD"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051093"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440107"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.3.477"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.5.1290"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23329","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23329","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:02:26Z","timestamp":1760954546000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,3]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["10.1002\/mds.23329"],"URL":"https:\/\/doi.org\/10.1002\/mds.23329","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,3]]}}}