Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
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Neslihan Doğulu
,
Ümmühan Öncül
,
Engin Köse
Abstract
Objectives
Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients in literature to date. Herein, we present the case of a four-year-old patient admitted with diabetic ketoacidosis and diagnosed with type C PC deficiency based on clinical and biochemical findings.
Case presentation
A Turkish girl was referred to the intensive care unit at the age of three-years with a three-day history of vomiting and abdominal pain. Upon physical examination, the patient was found to be experiencing lethargy, dehydration, and Kussmaul breathing. Hyperglycemia, metabolic acidosis, and ketonemia were detected. Clinical and laboratory findings pointed to a prediagnosis of diabetic ketoacidosis. Intravenous fluid, bicarbonate, and insulin treatments were initiated. Elevated alanine and proline levels were recorded in plasma amino acid analysis, while urinary organic acid level analysis revealed increased lactate, pyruvate, 3-OH-butyrate, and acetoacetate levels. Whole exome sequencing revealed homozygous c.584C>T (p.Ala195Val) mutation in the PC gene.
Conclusions
To date, there have been no reports in literature of type C phenotype patients manifesting with DKA. Our case is the first case with the type C phenotype to be admitted with clinical and laboratory findings of DKA.
Acknowledgments
We would like to express our gratitude to the patient’s parents for their understanding and cooperation in this study.
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Research funding: None declared.
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Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Ethical approval: A written informed consent was obtained from the parents for publication of the case.
References
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- Frontmatter
- Review Article
- Delivery factors and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019
- Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism
- Pituitary hypoplasia is the best MRI predictor of the severity and type of growth hormone deficiency in children with congenital growth hormone deficiency
- Urinary gonadotropin measurements by enhanced luminometric assays (LIA) for the evaluation of pubertal development
- Challenges in management of transient hyperinsulinism – a retrospective analysis of 36 severely affected children
- Who should return for an oral glucose tolerance test? A proposed clinical pathway based on retrospective analysis of 332 children
- Investigation of the prevalence of cardiovascular risk factors in obese patients diagnosed with metabolic syndrome in childhood and examination of left ventricular function by echocardiography
- Effect of l-carnitine supplementation on children and adolescents with nonalcoholic fatty liver disease (NAFLD): a randomized, triple-blind, placebo-controlled clinical trial
- Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown
- Evaluation of the pathophysiological role of Fetuin A levels in adolescents with polycystic ovary syndrome
- Gonadotropins for testicular descent in cryptorchid congenital hypogonadotropic hypogonadism males beyond infancy
- Clinical characteristics and outcome of hospitalized children and adolescent patients with type 1 diabetes during the COVID-19 pandemic: data from a single center surveillance study in Egypt
- Letter to the Editor
- Revisiting the effect of GnRH analogue treatment on bone mineral density in young adolescents with gender dysphoria
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- Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report
- The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
