A Case of Pyruvate Carboxylase Deficiency With Longer Survival and Normal Laboratory Findings.

Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 59 10 2021 11 10 A Case of Pyruvate Carboxylase Deficiency With Longer Survival and Normal Laboratory Findings. 625 628 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 2021 07 31 2021 09 08 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. https://acta.tums.ac.ir/index.php/acta/article/view/9573