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Acta Medica Iranica، جلد ۵۹، شماره ۱۰، صفحات ۶۲۵-۶۲۸
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عنوان انگلیسی A Case of Pyruvate Carboxylase Deficiency With Longer Survival and Normal Laboratory Findings.
چکیده انگلیسی مقاله 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.
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نویسندگان مقاله | Reza Bayat
Department of Pediatrics, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran


| Shahin Koohmanaee
Department of Pediatrics, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran


| Nejat Mahdie
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran


| Fatemeh Kharaee
Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran


| Maryam Shahrokhi
Department of Clinical Pharmacy, Faculty of Pharmacy, Guilan University of Medical Sciences, Rasht, Iran


| Afagh Hassanzadeh Rad
Department of Pediatrics, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran


| Saber Najafi Chakoosari
Student Research Committee, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran


| Setila Dalili
Department of Pediatrics, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran


| Seyede Azade Hoseini Nouri
Department of Pediatrics, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
نشانی اینترنتی https://acta.tums.ac.ir/index.php/acta/article/view/9573
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