Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency
-
Melis Demir Köse
,
Ruya Colak
Abstract
Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD) treatments were applied due to the failure to keep hyperammonemia and lactic acidosis under control. Ammonia values increasing to 860 μmol/L were observed. A homozygous novel variant was detected in PC gene analyses containing a 12-base pair deletion on exon 8. Although the mutation found was not reported previously, it was accepted as a pathogenic variant due to its presence in a functional region of the protein. In type B PC deficiency, although a high level of ammonia is expected, it rarely exceeds 200 μmol/L. As far as we know, the present case has the highest ammonia values in the literature. This paper has been shared to highlight to keep PC deficiency in mind regarding the differential diagnosis of hyperammonemia, particularly in the presence of lactic acidosis, and to serve as a model for the use of different modalities in the management process of PC deficiency.
Acknowledgments
We thank the family of the patient for taking part in this research project.
Author contributions: MK and RC had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: MK. Acquisition, analysis or interpretation of data: All authors. Drafting of the manuscript: MK. Critical revision of the manuscript for important intellectual content: All authors. Administrative, technical or material support: RC, FA, RB, GB, ES. Study supervision: MK, SC.
Research funding: There was no funding for this research project.
Employment or leadership: None declared.
Honorarium: None declared.
Disclosure statement: The authors have no conflicts of interest to declare.
Informed consent: Informed consent was obtained from the patient’s parents included in this paper.
Ethical approval: The research related to human use has complied with all the relevant national regulations and institutional policies, and was conducted in accordance with the tenets of the Helsinki Declaration and has been approved by the authors’ Institutional Review Board or an equivalent committee.
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Articles in the same Issue
- Frontmatter
- Review
- Prevalence of obesity and overweight in Iranian students: a systematic review and meta-analysis
- Original Articles
- Trends in pediatric obesity management, a survey from the Pediatric Endocrine Society Obesity Committee
- Utility of MR proton density fat fraction and its correlation with ultrasonography and biochemical markers in nonalcoholic fatty liver disease in overweight adolescents
- Vitamin D status and its relation to insulin resistance in a Mexican pediatric population
- Elevated serum uric acid, hyperuricaemia and dietary patterns among adolescents in mainland China
- Is there a relationship between the dietary inflammatory index and metabolic syndrome among adolescents?
- New insights into the expression of androgen and estrogen receptors of the appendix testis in congenital cryptorchidism
- General properties of autoimmune thyroid diseases and associated morbidities
- Comparison of leptin levels in neonates born to mothers with high or low gestational weight gain
- Percentile values of serum zinc concentration and prevalence of its deficiency in Iranian children and adolescents: the CASPIAN-V study
- Nine-year overview of dyslipidemia management in children with heterozygous familial hypercholesterolemia: a university hospital outpatient lipid clinic project in Northwestern Greece
- Gesell Developmental Schedules scores and the relevant factors in children with Down syndrome
- Letters to the Editor
- Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub’s flawed theories about child abuse and metabolic bone disease
- Reply of Miller and Ayoub to Brown et al. Letter to the Editor
- Case Reports
- Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families
- Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route
- Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
- Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency
- Autoimmune polyglandular syndrome type II with co-manifestation of Addison’s and Graves’ disease in a 15-year-old boy: case report and literature review
