A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.

Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters. Increased lactate to pyruvate ratio and decre...

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Autores principales:	shahin koohmanaee, nejat mahdie, Reza Bayat, fatemeh kharaee, Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, setila dalili
Formato:	article
Lenguaje:	EN
Publicado:	Tehran University of Medical Sciences 2021
Materias:	pyruvate carboxylase deficiency disease survival laboratories Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/3f37d69eae9943418301184ba3607a54
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spelling	oai:doaj.org-article:3f37d69eae9943418301184ba3607a542021-11-29T06:16:08ZA case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.0044-60251735-969410.18502/acta.v59i10.7772https://doaj.org/article/3f37d69eae9943418301184ba3607a542021-11-01T00:00:00Zhttps://acta.tums.ac.ir/index.php/acta/article/view/9573https://doaj.org/toc/0044-6025https://doaj.org/toc/1735-9694Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters. Increased lactate to pyruvate ratio and decreased 3 hydroxybutyrate to acetoacetate are the main biochemical features of PCD. The elevated level of Citrulline, Proline, and Lysine with a short life span has been reported previously. Patients’ survival in almost all cases is below three months. Here, the authors aimed to report a girl with manifestations of Type B of PCD and longer survival (two-year and four-month-old). This patient did not have any changes in amino acid level which was a unique case of Type B of PCD.shahin koohmanaeenejat mahdieReza Bayatfatemeh kharaeeMaryam ShahrokhiAfagh Hassanzadeh RadSaber Najafi Chakoosarisetila daliliTehran University of Medical Sciencesarticlepyruvate carboxylase deficiency diseasesurvivallaboratoriesMedicine (General)R5-920ENActa Medica Iranica, Pp 625-628 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	pyruvate carboxylase deficiency disease survival laboratories Medicine (General) R5-920
spellingShingle	pyruvate carboxylase deficiency disease survival laboratories Medicine (General) R5-920 shahin koohmanaee nejat mahdie Reza Bayat fatemeh kharaee Maryam Shahrokhi Afagh Hassanzadeh Rad Saber Najafi Chakoosari setila dalili A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
description	Pyruvate carboxylase deficiency (PCD) is a rare autosomal recessive defect in a biotin-containing enzyme, Pyruvate carboxylase, which is considered as an enzyme of TCA-cycle regulation, gluconeogenesis, lipogenesis, and biosynthesis of neurotransmitters. Increased lactate to pyruvate ratio and decreased 3 hydroxybutyrate to acetoacetate are the main biochemical features of PCD. The elevated level of Citrulline, Proline, and Lysine with a short life span has been reported previously. Patients’ survival in almost all cases is below three months. Here, the authors aimed to report a girl with manifestations of Type B of PCD and longer survival (two-year and four-month-old). This patient did not have any changes in amino acid level which was a unique case of Type B of PCD.
format	article
author	shahin koohmanaee nejat mahdie Reza Bayat fatemeh kharaee Maryam Shahrokhi Afagh Hassanzadeh Rad Saber Najafi Chakoosari setila dalili
author_facet	shahin koohmanaee nejat mahdie Reza Bayat fatemeh kharaee Maryam Shahrokhi Afagh Hassanzadeh Rad Saber Najafi Chakoosari setila dalili
author_sort	shahin koohmanaee
title	A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
title_short	A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
title_full	A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
title_fullStr	A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
title_full_unstemmed	A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
title_sort	case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.
publisher	Tehran University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/3f37d69eae9943418301184ba3607a54
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A case of pyruvate carboxylase deficiency with longer survival and normal laboratory findings.

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