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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...

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Autores principales: Sur, Lucia Maria, Mager, Monica Alina, Bolunduţ, Alexandru-Cristian, Trifa, Adrian-Pavel, Anton-Păduraru, Dana Teodora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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