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Mirhosseini, N., Golshan-Tafti, M., Mirhosseini, S. (2024). A Case Report of a Patient with Pyruvate Carboxylase Deficiency. Shahid Sadoughi University of Medical Sciences- Journal Management System, 6(2), 113-116. doi: 10.18502/wjpn.v6i2.15493
Naser Ali Mirhosseini; Mohammad Golshan-Tafti; Shima Mirhosseini. "A Case Report of a Patient with Pyruvate Carboxylase Deficiency". Shahid Sadoughi University of Medical Sciences- Journal Management System, 6, 2, 2024, 113-116. doi: 10.18502/wjpn.v6i2.15493
Mirhosseini, N., Golshan-Tafti, M., Mirhosseini, S. (2024). 'A Case Report of a Patient with Pyruvate Carboxylase Deficiency', Shahid Sadoughi University of Medical Sciences- Journal Management System, 6(2), pp. 113-116. doi: 10.18502/wjpn.v6i2.15493
Mirhosseini, N., Golshan-Tafti, M., Mirhosseini, S. A Case Report of a Patient with Pyruvate Carboxylase Deficiency. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2024; 6(2): 113-116. doi: 10.18502/wjpn.v6i2.15493

A Case Report of a Patient with Pyruvate Carboxylase Deficiency

World Journal of Peri and Neonatology
Volume 6, Issue 2, June 2024, Pages 113-116    PDF (550.88 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v6i2.15493
Authors
Naser Ali Mirhosseini1, 2, 3; Mohammad Golshan-Tafti4; Shima Mirhosseini* 5
1Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Pediatrics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4Department of Pediatrics, Ali-ebn-Abitaleb School of Medicine, Islamic Azad University, Yazd Branch, Yazd, Iran
5Department of Biology, Faculty of Science, Yazd University, Yazd, Iran
Abstract
Background: Pyruvate carboxylase catalyzes the carboxylation of pyruvate to oxaloacetate, a crucial intermediate of the tricarboxylic acid (TCA) cycle and the initial step in converting pyruvate to glucose (gluconeogenesis). Pyruvate carboxylase deficiency is a rare metabolic disorder characterized by lactic acidosis, failure to thrive, development delay, and recurrent seizures at an early age in severely affected patients. The onset and severity of pyruvate carboxylase deficiency have been classified as severe neonatal (type B), usually fatal, less severe infantile (type A), compatible with survival but with impaired neurologic development, and milder, later onset (type C) with some residual impairment. Clinical manifestations include hypotonia, mixed hypertonia, ataxia, choreoathetosis, microcephaly, and other signs of impaired white matter development.
Case Report: A 7-day-old baby with a birth weight of 3kg, born to related parents, presented with clinical symptoms such as lethargy, poor feeding, and grunting since birth. Additionally, he experienced a drop in O2 saturation and cyanosis during his hospitalization. Test results revealed lactic acidosis and hyperammonemia. Furthermore, serum amino acids chromatography- HPLC indicated an increase in lysine and citrulline. The patient succumbed after 16 days due to multi-organ damage. Genetic analysis identified pyruvate carboxylase enzyme deficiency.
Conclusion: Pyruvate carboxylase deficiency is a rare inborn error of metabolism that can lead to developmental delay and failure to thrive, typically beginning in the neonatal or early infantile period. The possibility of pyruvate carboxylase deficiency should be considered in any child presenting with lactic acidosis and neurological abnormalities, particularly if associated with hypoglycemia, hyperammonemia, or ketosis.
Keywords
Pyruvate carboxylase deficiency; Lactic acidosis; Neurological abnormality; Hypoglycemia
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