Title of article :
A Case of Pyruvate Carboxylase Deficiency With Longer Survival and Normal Laboratory Findings.
Author/Authors :
Bayat ، Reza Department of Pediatrics - Pediatric Diseases Research Center - Guilan University of Medical Sciences , Koohmanaee ، Shahin Department of Pediatrics - Pediatric Diseases Research Center - Guilan University of Medical Sciences , Mahdie ، Nejat Rajaie Cardiovascular Medical and Research Center - Iran University of Medical Sciences , Kharaee ، Fatemeh Department of Pediatrics - Pediatric Diseases Research Center - Guilan University of Medical Sciences , Shahrokhi ، Maryam Department of Clinical Pharmacy - Faculty of Pharmacy - Guilan University of Medical Sciences , Hassanzadeh Rad ، Afagh Department of Pediatrics - Pediatric Diseases Research Center - Guilan University of Medical Sciences , Najafi Chakoosari ، Saber Student Research Committee, School of Medicine - Guilan University of Medical Sciences , Dalili ، Setila Department of Pediatrics - Pediatric Diseases Research Center - Guilan University of Medical Sciences , Hoseini Nouri ، Azade Department of Pediatrics - Pediatric Diseases Research Center - Guilan University of Medical Sciences
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.
Keywords :
Pyruvate carboxylase deficiency disease , Survival , Laboratories
Journal title :
Acta Medica Iranica
Journal title :
Acta Medica Iranica
