Acta Medica Iranica (Nov 2021)

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

  • shahin koohmanaee,
  • nejat mahdie,
  • Reza Bayat,
  • fatemeh kharaee,
  • Maryam Shahrokhi,
  • Afagh Hassanzadeh Rad,
  • Saber Najafi Chakoosari,
  • setila dalili

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

Abstract

Read online

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.

Keywords