A Case of Pyruvate Carboxylase Deficiency With Longer Survival and Normal Laboratory Findings.
-
Reza Bayat
,
Shahin Koohmanaee
,
Nejat Mahdie
,
Fatemeh Kharaee
,
Maryam Shahrokhi
,
Afagh Hassanzadeh Rad
,
Saber Najafi Chakoosari
,
Setila Dalili
,
Seyede Azade Hoseini Nouri
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 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.
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10. Devivo DC, Haymond MW, Leckie MP, Bussmann YL, Mcdougal Jr DB, Pagliara AS. The clinical and biochemical implications of pyruvate carboxylase deficiency. J Clin Endocrinol Metab 1977;45:1281-96.
11. Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, et al. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab 2005;84:305-12.
12. Wang D, Yang H, De Braganca KC, Lu J, Shih LY, Briones P, et al. The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. Mol Genet Metab 2008;95:31-8.
13. Hidalgo J, Campoverde L, Ortiz JF, Ruxmohan S, Eissa-Garcés A. A Unique Case of Pyruvate Carboxylase Deficiency. Cureus 2021;13:e15042.
14. Mhanni AA, Rockman‐Greenberg C, Ryner L, Bunge M. Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c. 1828G> A mutations. JIMD Rep 2021;61:42-7.
15. Köse MD, Colak R, Ergon EY, Kulali F, Yildiz M, Alkan S, et al. Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency. J Pediatr Endocrinol Metab 2020;33:569-74.
2. Coci EG, Gapsys V, Shur N, Shin‐Podskarbi Y, de Groot BL, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P. Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation. Hum Mutat 2019;40:816-27.
3. Jitrapakdee S, Booker GW, Cassady AI, Wallace JC. Cloning, sequencing and expression of rat liver pyruvate carboxylase. Biochem J 1996;316:631-7.
4. Jitrapakdee S, Wallace JC. Structure, function and regulation of pyruvate carboxylase. Biochem J 1999;340:1-6.
5. Ebertowska A, Ludkiewicz B, Klejbor I, Melka N, Moryś J. Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment. Folia Morphol (Warsz) 2020;79:191-7.
6. Marin-Valencia I, Roe CR, Pascual JM. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol Genet Metab 2010;101:9-17.
7. García‐Cazorla A, Rabier D, Touati G, Chadefaux‐Vekemans B, Marsac C, de Lonlay P, et al. Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann Neurol 2006;59:121-7.
8. Hommes FA, Polman HA, Reerink JD. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child 1968;43:423-6.
9. Mangla P, Gambhir PS, Sudhanshu S, Srivastava P, Rai A, Bhatia V, Phadke SR. Pyruvate carboxylase deficiency mimicking diabetic ketoacidosis. Indian J Pediatr 2017;84:959-60.
10. Devivo DC, Haymond MW, Leckie MP, Bussmann YL, Mcdougal Jr DB, Pagliara AS. The clinical and biochemical implications of pyruvate carboxylase deficiency. J Clin Endocrinol Metab 1977;45:1281-96.
11. Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, et al. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab 2005;84:305-12.
12. Wang D, Yang H, De Braganca KC, Lu J, Shih LY, Briones P, et al. The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. Mol Genet Metab 2008;95:31-8.
13. Hidalgo J, Campoverde L, Ortiz JF, Ruxmohan S, Eissa-Garcés A. A Unique Case of Pyruvate Carboxylase Deficiency. Cureus 2021;13:e15042.
14. Mhanni AA, Rockman‐Greenberg C, Ryner L, Bunge M. Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c. 1828G> A mutations. JIMD Rep 2021;61:42-7.
15. Köse MD, Colak R, Ergon EY, Kulali F, Yildiz M, Alkan S, et al. Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency. J Pediatr Endocrinol Metab 2020;33:569-74.
| Files | ||
| Issue | Vol 59, No 10 (2021) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/acta.v59i10.7772 | |
| Keywords | ||
| Pyruvate carboxylase deficiency disease Survival Laboratories | ||
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How to Cite
1.
Bayat R, Koohmanaee S, Mahdie N, Kharaee F, Shahrokhi M, Hassanzadeh Rad A, Najafi Chakoosari S, Dalili S, Hoseini Nouri SA. A Case of Pyruvate Carboxylase Deficiency With Longer Survival and Normal Laboratory Findings. Acta Med Iran. 2021;59(10):625-628.
