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6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Ann Neurol. 2005 Jul; 58(1):164-7.AN

Abstract

Severe 6-pyruvoyl-tetrahydrobiopterin synthase deficiency is a tetrahydrobiopterin deficiency disorder that presents in infancy with developmental delay, seizures, and abnormal movements associated with hyperphenylalaninemia usually detectable by neonatal phenylketonuria screening programs. We describe an 8-year-old girl with delay, seizures, and dystonia with mild hyperphenylalaninemia detected in late childhood. The diagnosis of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency was made by analysis of pterins in urine, pterins and neurotransmitters in cerebrospinal fluid, and enzyme assay. The patient improved clinically taking oral tetrahydrobiopterin, levodopa/carbidopa, and 5-hydroxytryptophan. This treatable condition may not always be detected by routine population screening for hyperphenylalaninemia.

Authors+Show Affiliations

Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of British Columbia, Vancouver, Canada. mdemos@cw.bc.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15984017

Citation

Demos, Michelle K., et al. "6-pyruvoyl-tetrahydropterin Synthase Deficiency With Mild Hyperphenylalaninemia." Annals of Neurology, vol. 58, no. 1, 2005, pp. 164-7.
Demos MK, Waters PJ, Vallance HD, et al. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Ann Neurol. 2005;58(1):164-7.
Demos, M. K., Waters, P. J., Vallance, H. D., Lillquist, Y., Makhseed, N., Hyland, K., Blau, N., & Connolly, M. B. (2005). 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Annals of Neurology, 58(1), 164-7.
Demos MK, et al. 6-pyruvoyl-tetrahydropterin Synthase Deficiency With Mild Hyperphenylalaninemia. Ann Neurol. 2005;58(1):164-7. PubMed PMID: 15984017.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. AU - Demos,Michelle K, AU - Waters,Paula J, AU - Vallance,Hilary D, AU - Lillquist,Yolanda, AU - Makhseed,Nawal, AU - Hyland,Keith, AU - Blau,Nenad, AU - Connolly,Mary B, PY - 2005/6/29/pubmed PY - 2005/9/7/medline PY - 2005/6/29/entrez SP - 164 EP - 7 JF - Annals of neurology JO - Ann. Neurol. VL - 58 IS - 1 N2 - Severe 6-pyruvoyl-tetrahydrobiopterin synthase deficiency is a tetrahydrobiopterin deficiency disorder that presents in infancy with developmental delay, seizures, and abnormal movements associated with hyperphenylalaninemia usually detectable by neonatal phenylketonuria screening programs. We describe an 8-year-old girl with delay, seizures, and dystonia with mild hyperphenylalaninemia detected in late childhood. The diagnosis of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency was made by analysis of pterins in urine, pterins and neurotransmitters in cerebrospinal fluid, and enzyme assay. The patient improved clinically taking oral tetrahydrobiopterin, levodopa/carbidopa, and 5-hydroxytryptophan. This treatable condition may not always be detected by routine population screening for hyperphenylalaninemia. SN - 0364-5134 UR - https://wwww.unboundmedicine.com/medline/citation/15984017/6_pyruvoyl_tetrahydropterin_synthase_deficiency_with_mild_hyperphenylalaninemia_ L2 - https://doi.org/10.1002/ana.20532 DB - PRIME DP - Unbound Medicine ER -