✦ LIBER ✦

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

✍ Scribed by Emmanuel Roze; Marie Vidailhet; Nenad Blau; Lisbeth Birk Moller; Diane Doummar; Thierry Billette de Villemeur; Anne Roubergue

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 96 KB
Volume: 21
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20699

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Little information is available on the long‐term course and adult outcome of patients with 6‐pyruvoyl‐tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32‐year‐old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and incomplete puberty due to PTPS deficiency. From the age of 6 months she developed progressive hypotonia and choreoathtetoid movements despite good control of hyperphenylalaninemia. Tetrahydrobiopterin deficiency was diagnosed at age 3 years. She had a dramatic response to L‐dopa, which persisted at a stable dose for 29 years. Reducing the L‐dopa dose led to severe axial hypotonia and limb dystonia, and increasing it led to florid abnormal movements and behavioral disorders. This report illustrates the role of dopamine modulation in motor, psychiatric, and endocrine functions. © 2005 Movement Disorder Society

📜 SIMILAR VOLUMES

Identification of mutations causing 6-py

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

✍ Tanja Oppliger; Beat Thöny; Claudia Kluge; Ana Matasovic; Claus W. Heizmann; Alb 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

Communicated by R.G

Long-term follow-up of a new case of liv

Long-term follow-up of a new case of liver glycogen synthase deficiency

✍ Laberge, Anne Marie ;Mitchell, Grant A. ;van de Werve, Gerald ;Lambert, Marie 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB

6-Pyruvoyl-tetrahydropterin synthase def

6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study

✍ Dr. T. Hanihara; K. Inoue; C. Kawanishi; N. Sugiyama; T. Miyakawa; H. Onishi; Y. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 380 KB

## Abstract We report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremitie

Tetrahydrobiopterin deficiency: assay fo

Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers

✍ H. Shintaku; A. Niederwieser; W. Leimbacher; H. -Ch. Curtius 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 561 KB

6-Pyruvoyl-tetrahydropterin synthase (PTS), a key enzyme in the synthesis of tetrahydrobiopterin in man, is defective in the most frequent variant of tetrahydrobiopterin-deficient hyperphenylalaninaemia (atypical phenylketonuria). An assay for PTS activity in erythrocytes was developed. It is based

Mutation analysis of the 6-pyruvoyl-tetr

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency

✍ Tze-Tze Liu; Kwang-Jen Hsiao; Sheng-Feng Lu; Sheu-Jen Wu; Kuei-Fen Wu; Szu-Hui C 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 1 views

Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major cause of BH4 deficient HPA. In this study, seven singl

Long-term outcome and neuroradiological

Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency

✍ L. Wang; W.-M. Yu; C. He; M. Chang; M. Shen; Z. Zhou; Z. Zhang; S. Shen; T.-T. L 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 400 KB