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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136628/ https://www.ncbi.nlm.nih.gov/pubmed/37189976 http://dx.doi.org/10.3390/children10040727 |
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author | Sur, Lucia Maria Mager, Monica Alina Bolunduţ, Alexandru-Cristian Trifa, Adrian-Pavel Anton-Păduraru, Dana Teodora |
author_facet | Sur, Lucia Maria Mager, Monica Alina Bolunduţ, Alexandru-Cristian Trifa, Adrian-Pavel Anton-Păduraru, Dana Teodora |
author_sort | Sur, Lucia Maria |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-10136628 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101366282023-04-28 Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review Sur, Lucia Maria Mager, Monica Alina Bolunduţ, Alexandru-Cristian Trifa, Adrian-Pavel Anton-Păduraru, Dana Teodora Children (Basel) Case Report 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. MDPI 2023-04-14 /pmc/articles/PMC10136628/ /pubmed/37189976 http://dx.doi.org/10.3390/children10040727 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Sur, Lucia Maria Mager, Monica Alina Bolunduţ, Alexandru-Cristian Trifa, Adrian-Pavel Anton-Păduraru, Dana Teodora Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review |
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 | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136628/ https://www.ncbi.nlm.nih.gov/pubmed/37189976 http://dx.doi.org/10.3390/children10040727 |
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