{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T10:42:47Z","timestamp":1776854567011,"version":"3.51.2"},"reference-count":14,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,1,7]],"date-time":"2009-01-07T00:00:00Z","timestamp":1231286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Sepiapterin reductase (SR) catalyses the last step in the tetrahydrobiopterin biosynthesis pathway; it converts 6\u2010pyruvoyl\u2010tetrahydropterin (6\u2010PTP) to BH<jats:sub>4<\/jats:sub> in an NADPH\u2010dependent reaction. SR deficiency is a very rare autosomal recessive disorder with normal phenylalanine (Phe) concentration in blood and diagnostic abnormalities are detected in CSF. We present a 16\u2010month\u2010old girl with SR deficiency. From the newborn period she presented with an adaptation regulatory disorder. At the age of 3 months, abnormal eye movements with dystonic signs and at 4.5 months psychomotor retardation were noticed. Since that time axial hypotonia with limb spasticity (or rather delayed reflex development), gastro\u2010oesophageal reflux and fatigue at the end of the day has been observed. Brain MRI was normal; EEG was without epileptiform discharges. Analysis of biogenic amine metabolites in CSF at the age of 16 months showed very low HVA and 5\u2010HIAA concentrations. Analysis of CSF pterins revealed strongly elevated dihydrobiopterin (BH<jats:sub>2<\/jats:sub>), slightly elevated neopterin and elevated sepiapterin levels. Plasma and CSF amino acids concentrations were normal. A phenylalanine loading test showed increased Phe after 1 h, 2 h and 4 h and very high Phe\/Tyr ratios. SR deficiency was confirmed in fibroblasts and a novel homozygous g.1330C&gt;G (p.N127K) <jats:italic>SPR<\/jats:italic> mutation was identified. On <jats:sc>l<\/jats:sc>\u2010dopa and then additionally 5\u2010hydroxytryptophan, the girl showed slow but remarkable progress in motor and intellectual ability. Now, at the age of 3 years, she is able to sit; expressive speech is delayed (to 1 1\/2 years), passive speech is well developed. Her visual\u2010motor skills, eye\u2013hand coordination and social development correspond to the age of 2 1\/2 years.<\/jats:p>","DOI":"10.1007\/s10545-008-1009-4","type":"journal-article","created":{"date-parts":[[2009,1,7]],"date-time":"2009-01-07T13:32:18Z","timestamp":1231335138000},"page":"5-10","source":"Crossref","is-referenced-by-count":11,"title":["Sepiapterin reductase deficiency in a 2\u2010year\u2010old girl with incomplete response to treatment during short\u2010term follow\u2010up"],"prefix":"10.1002","volume":"32","author":[{"given":"K.","family":"Kusmierska","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Experimental Medicine The Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010830 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. E. W.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Szymanska","sequence":"additional","affiliation":[{"name":"Department of Neurology Research Institute of Mother and Child Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Malunowicz","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Experimental Medicine The Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010830 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Meilei","sequence":"additional","affiliation":[{"name":"Division of Clinical Chemistry and Biochemistry University Children's Hospital Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Thony","sequence":"additional","affiliation":[{"name":"Division of Clinical Chemistry and Biochemistry University Children's Hospital Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Blau","sequence":"additional","affiliation":[{"name":"Division of Clinical Chemistry and Biochemistry University Children's Hospital Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Tryfon","sequence":"additional","affiliation":[{"name":"Department of Neurology Research Institute of Mother and Child Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Rokicki","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Pronicka","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Sykut\u2010Cegielska","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,1,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.03.010"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3213"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/321970"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2006.05.006"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000247274.21261.b4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-4347(00)83594-X"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005587719505"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2006.03.002"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh603"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-006-0033-7"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-004-0029-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.07.010"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005591820414"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.04.003"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1009-4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-1009-4","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1009-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:17:30Z","timestamp":1694747850000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-1009-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1,7]]},"references-count":14,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-008-1009-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-1009-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1,7]]}}}