caa a22 4500 467932549 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0080-y doi (NATIONALLICENCE)springer-10.1007/s10545-006-0080-y Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency [Elektronische Daten] [L. Wang, W.-M. Yu, C. He, M. Chang, M. Shen, Z. Zhou, Z. Zhang, S. Shen, T.-T. Liu, K.-J. Hsiao] Summary: Tetrahydrobiopterin (BH4) deficiency is an autosomal recessive disorder caused by enzyme defects in the biosynthesis or recycling of BH4. Patients with BH4 deficiency present with severe neurological signs and symptoms and .require a different treatment from classical phenylketonuria. During the last 12 years, 31 cases of BH4 deficiency were identified in our department. They were all classified as 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. They were diagnosed at the ages of 2.5-48 months and treated with BH4, L-dopa and 5-hydroxytryptophan immediately after diagnosis. The average development quotients (DQ) at diagnosis and after treatment for more than 3 years were 53± 16, and 78± 15, respectively. A significant negative correlation was observed between the level of the DQ and the age at which treatment was commenced (r = −0.751, p = 0.002). Developmental profiles were uneven. Language, adaptability and at later age mathematics were particularly weak areas. Only two patients achieved a good performance in mathematics. Eleven patients who were treated with drugs from ages of 2.9-48 months had neuroradiological scanning. Computed tomography disclosed calcification in lentiform nuclei in one patient and magnetic resonance imaging disclosed delayed myelination and abnormal high intensity signal in cerebral white matter in all of them. Even though most of abnormalities were reversible, small patchy or spotted areas were still present on these regions after treatment for 10-46 months. In summary, our study supports the substantial efficacy of the current therapeutic approach in PTPS deficiency of normalizing amine neurotransmitters with three drugs as early as possible. For the first time, calcifications could be detected in patients with PTPS deficiency. Abnormalities in white matter on magnetic resonance imaging were not related to clinical manifestations and most were reversible. SSIEM and Springer, 2006 Wang L. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut Yu W.-M Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut He C. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut Chang M. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut Shen M. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut Zhou Z. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut Zhang Z. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut Shen S. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut Liu T.-T National Yang-Ming University, Taiwan aut Hsiao K.-J National Yang-Ming University, Taiwan aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 127-134 0141-8955 29:1<127 2006 29 10545 https://doi.org/10.1007/s10545-006-0080-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0080-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wang L. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- Yu W.-M Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- He C. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- Chang M. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- Shen M. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- Zhou Z. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- Zhang Z. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- Shen S. Department of Medical Genetics, China-Japan Friendship Hospital, Yinghua East Road, Chaoyang District, 100029, Beijing, China aut NATIONALLICENCE 700 1- Liu T.-T National Yang-Ming University, Taiwan aut NATIONALLICENCE 700 1- Hsiao K.-J National Yang-Ming University, Taiwan aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 127-134 0141-8955 29:1<127 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer