Request Demo

Last update 08 May 2025

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Last update 08 May 2025

Basic Info

Synonyms

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY, 6-Pyruvoyl tetrahydropterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

+ [19]

Introduction

An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.

Drugs associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Recombinant coagulation factor VIII (Rongsheng Pharmaceuticals)

Target

F10

Mechanism

F10 stimulants [+2]

Active Org.

Chengdu Rongsheng Pharmaceutical Co., Ltd.

Originator Org.

Chengdu Rongsheng Pharmaceutical Co., Ltd.

Active Indication

Hemophilia A

Inactive Indication

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

China

First Approval Date05 Sep 2023

Para-Toluenesulfonamide

Target

CA2 x CA3

Mechanism

CA2 inhibitors [+1]

Active Org.

Gongwin Biopharm Holdings Co., Ltd. [+1]

Originator Org.

Tianjin Hongri Jiandakang Medical Technology Co Ltd

Active Indication

Non-Small Cell Lung Cancer [+1]

Inactive Indication

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency [+5]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

China

First Approval Date15 Nov 2022

Simoctocog alfa

Target

F10

Mechanism

F10 stimulants

Active Org.

Octapharma Australia Pty Ltd. [+4]

Originator Org.

Octapharma AG

Active Indication

Hemophilia A

Inactive Indication

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

European Union [+3]

First Approval Date22 Jul 2014

Clinical Trials associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

JPRN-jRCT2052220174

/ RecruitingPhase 3IIT

Efficacy and safety clinical trial in SKD-001

Start Date22 Feb 2023

Sponsor / Collaborator-

NCT05409144

/ Unknown statusNot ApplicableIIT

Impact of Thoracic Epidural Infusion Versus Continuous Serratus Anterior Plane Block Versus Continuous Erector Spinae Plane Block on Incidence of Post Thoracotomy Pain Syndrome: A Randomized Controlled Trial

The aim of this study is to evaluate the impact of Ultrasound-guided Erector Spinae plane block compared to Ultrasound-guided serratus anterior plane block on the emergence of post-thoracotomy pain syndrome in patients undergoing lobectomy for lung cancer.

Start Date20 Jun 2022

Sponsor / Collaborator

The National Cancer Institute (Egypt)

NCT05051657

/ RecruitingNot Applicable

A Study To Evaluate The Acceptability Of the Express Plus Range, Foods For Special Medical Purposes (FSMP), In Children And Adults With Inborn Errors of Metabolism (IEM)

A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM. The following parameters will be assessed: adherence to prescribed dietary intakes, palatability, usability, gastrointestinal tolerance, clinically relevant routine biochemical parameters, timeframe to transition and contribution of the express plus range to overall protein substitute intake over a 28 day period.

Start Date14 Jun 2021

Sponsor / Collaborator

Vitaflo

100 Clinical Results associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

100 Translational Medicine associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

0 Patents (Medical) associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

509

Literatures (Medical) associated with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

01 Jun 2025·The Knee

Posterior tibial slope after total knee arthroplasty is not reproducible or consistent

Article

Author: Akdoğan, Mutlu ; Ateş, Yalım ; Atilla, Halis Atıl ; Barça, Fatih ; Demir, Ekin Barış ; Uçak, Mert

BACKGROUNDOur aim was to compare posterior tibial slope (PTS) values, distribution, deviation from manufacturer's recommended value and restoration of this value in total knee arthroplasty (TKA) with tibial component placement using intramedullary (IM) and extramedullary (EM) methods, and to analyze factors affecting these values.METHODSA total of 151 knees operated with Zimmer-Biomet NexGen® LPS Fixed Bearing Knee TKA between 2022 and 2024 were retrospectively investigated. Knees were grouped by method of tibial component placement (IM or EM). Pre-operative descriptive data, postoperative PTS, scatteredness of PTS, difference between pre-operative and postoperative PTS, deviation from 7° which was claimed by the manufacturer and rate of outliers were compared between groups. Factors that might affect postoperative PTS in the EM group were analyzed.RESULTSNinety-five knees (62.9%) in the EM group and 56 knees (37.1%) in the IM group were analyzed. Mean PTS decreased from 8.8 ± 3.5° to 6.7 ± 2.7° (P < 0.001) in the EM group, and from 10 ± 4.1° to 4.9 ± 2.6° (P < 0.001) in the IM group. Postoperative PTS was significantly lower in the IM group (P < 0.001). Mean deviation from 7° claimed by the manufacturer was 2.4 ± 1.4° for the EM group and 2.8 ± 1.8° for the IM group (P = 0.14). In 15 of 151 patients (9.9%), postoperative PTS was above 10°. Linear regression analysis revealed a moderate effect of pre-operative PTS and weight in the EM group.CONCLUSIONSAlthough not statistically significant, the EM method is closer to the manufacturer's recommendation for sagittal alignment. However, both groups had a wide range of PTS and a large number of outliers. Both methods are not reliable in terms of PTS reproducibility and consistency.

01 Mar 2025·Molecular Genetics and Metabolism Reports

The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland

Article

Author: Monavari, A A ; Crushell, E ; Boruah, R ; Mayne, P D ; Knerr, I ; Fisher, A

We present a case series of seven patients (5 males, 2 females, aged 7-38 yrs.) in Ireland with biopterin metabolism disorder. Five individuals had been diagnosed with dihydropteridine reductase (DHPR) deficiency and two with pyruvoyl tetrahydropterin synthase (PTPS) deficiency. While clinical symptoms were mainly neuro-developmental in nature, one of our patients with DHPR deficiency also had a mild pulmonary valve stenosis and patent arterial duct in infancy which subsequently resolved as a hitherto undescribed finding in this condition. Clinical outcomes in our patient cohort were overall satisfactory with the best outcomes in patients/siblings diagnosed on high-risk screening. In conclusion, early diagnosis, pathophysiology-driven treatments and frequent patient-specific treatment adjustments are crucial to sustain the best possible long-term outcomes. Ireland's cohort of tetrahydropterin metabolism disorders highlights that improved outcomes are achieved with an early diagnosis which may not be attainable through newborn screening alone.

01 Feb 2025·Journal of Neurosurgery: Spine

A novel minimally invasive surgical technique for posttraumatic syringomyelia: subarachnoid−subarachnoid bypass

Article

Author: Jian, Fengzeng ; Wang, Jiachen ; Guan, Jian ; Yuan, Chenghua ; Wu, Hao ; Zhang, Can ; Chen, Zan

OBJECTIVECurrent treatment options for posttraumatic syringomyelia (PTS) lack clear standardization and often result in common complications. This study aims to introduce a novel minimally invasive technique for a modified subarachnoid−subarachnoid (S−S) bypass procedure for PTS.METHODSThe study included 20 consecutive patients with symptomatic PTS who underwent the modified S−S bypass. The surgical technique of modified S−S bypass involved two-laminae fenestration based on preoperative MRI and myelography results showing normal subarachnoid space above and below the injury site. A passer was used to create a subcutaneous tunnel, and two medical-grade silicone tubes were inserted into the normal subarachnoid space at the cranial and caudal ends. Bypass tubes were placed in the subcutaneous tunnel, and dural closure was achieved using 6-0 nonabsorbable sutures. The mean follow-up period was 14.9 (range 12−18) months, with neurological function assessed using a standard grading system and MRI used to evaluate the change in syrinx size.RESULTSSeventeen patients demonstrated clinical improvement, while 3 remained stable. The mean preoperative syrinx length on MRI was 16.9 spinal levels, with a mean Syringomyelia Tension Index (STI) of 58.1%. The postoperative mean STI was 28.4%, significantly lower than preoperative values (p < 0.05).CONCLUSIONSModified S−S bypass, which can be performed without myelotomy and without the bypass tubes interfering with the adhesion, was not only a safe and effective surgical technique, but may also be a physiologically better way of treating PTS.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Basic Info

Related

Analysis