Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review
6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neuro...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-04-01
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| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/10/4/727 |
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| author | Lucia Maria Sur Monica Alina Mager Alexandru-Cristian Bolunduţ Adrian-Pavel Trifa Dana Teodora Anton-Păduraru |
| author_facet | Lucia Maria Sur Monica Alina Mager Alexandru-Cristian Bolunduţ Adrian-Pavel Trifa Dana Teodora Anton-Păduraru |
| author_sort | Lucia Maria Sur |
| collection | DOAJ |
| description | 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds. |
| first_indexed | 2024-03-11T05:08:39Z |
| format | Article |
| id | doaj.art-fe3e6037d6894693b19e2199e14a2a7b |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-11T05:08:39Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-fe3e6037d6894693b19e2199e14a2a7b2023-11-17T18:46:51ZengMDPI AGChildren2227-90672023-04-0110472710.3390/children10040727Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature ReviewLucia Maria Sur0Monica Alina Mager1Alexandru-Cristian Bolunduţ2Adrian-Pavel Trifa3Dana Teodora Anton-Păduraru4Faculty of General Medicine, University of Medicine and Pharmacy Iuliu Haţieganu Cluj-Napoca, 400015 Cluj-Napoca, RomaniaFaculty of General Medicine, University of Medicine and Pharmacy Iuliu Haţieganu Cluj-Napoca, 400015 Cluj-Napoca, RomaniaFaculty of General Medicine, University of Medicine and Pharmacy Iuliu Haţieganu Cluj-Napoca, 400015 Cluj-Napoca, RomaniaFaculty of Medicine, Medical Genetics, University of Medicine and Pharmacy Victor Babes Timisoara, 400349 Cluj-Napoca, RomaniaFaculty of Medicine, Mother and Child Discipline, Department of Pediatrics, University of Medicine and Pharmacy Grigore T. Popa Iasi, 700115 Iasi, Romania6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neurological damage secondary to this neurotransmitter disorder. We present the first two cases of PTPSD in Romania that were genetically confirmed and treated late. Improving the diagnosis and monitoring procedures in Romania with correct metabolic management will prevent severe neurological impairment from PTPSD or other BH4Ds.https://www.mdpi.com/2227-9067/10/4/7276-PTPSDBH4DsHPANBSpterinslate diagnosis |
| spellingShingle | Lucia Maria Sur Monica Alina Mager Alexandru-Cristian Bolunduţ Adrian-Pavel Trifa Dana Teodora Anton-Păduraru Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review Children 6-PTPSD BH4Ds HPA NBS pterins late diagnosis |
| title | Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review |
| title_full | Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review |
| title_fullStr | Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review |
| title_full_unstemmed | Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review |
| title_short | Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review |
| title_sort | two cases of 6 pyruvoyl tetrahydropterin synthase deficiency case report and literature review |
| topic | 6-PTPSD BH4Ds HPA NBS pterins late diagnosis |
| url | https://www.mdpi.com/2227-9067/10/4/727 |
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