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

Reza Bayat; Shahin Koohmanaee; Nejat Mahdieh; Fatemeh Kharaee; Maryam Shahrokhi; Afagh Hassanzadeh Rad; Saber Najafi Chakoosari; Setila Dalili; Seyede Azade  Hoseini Nouri

doi:10.18502/acta.v59i10.7772

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 Mahdieh Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Fatemeh Kharaee Department of Pediatrics, Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, 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

DOI: https://doi.org/10.18502/acta.v59i10.7772

Keywords: Pyruvate carboxylase deficiency disease; Survival; Laboratories

Abstract

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 three hydroxybutyrates 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.