Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 12/2017

01-12-2017 | Scientific Letter

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis

Authors: Pragya Mangla, Poonam Singh Gambhir, Siddhnath Sudhanshu, Priyanka Srivastava, Archana Rai, Vijayalakshmi Bhatia, Shubha R. Phadke

Published in: Indian Journal of Pediatrics | Issue 12/2017

Login to get access

Excerpt

To the Editor: Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive inborn error of metabolism (IEM) with a defect in pyruvate metabolism. It usually presents with hypoglycemia in infancy. We report an infant whose presentation mimicked diabetic ketoacidosis (DKA) but was later found to have pyruvate carboxylase deficiency with a novel homozygous mutation in the PC gene. …
Literature
1.
Sharda S, Angurana SK, Walia M, Attri S. Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation. JIMD Rep. 2013;11:43–7.CrossRefPubMedPubMedCentral
2.
Sass JO. Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis. 2012;35:23–8.CrossRefPubMed
3.
Paksu MS, Kalkan G, Asilioglu N, Paksu S, Dinler G. Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis. Pediatr Emerg Care. 2011;27:1180–1.CrossRefPubMed
4.
Marin-Valencia I, Roe CR, Pascual JM. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Mol Genet Metab. 2010;101:9–17.CrossRefPubMed
5.
Buist NR. Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate? J Inherit Metab Dis. 1980;3:113–6.
Metadata
Title
Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis
Authors
Pragya Mangla
Poonam Singh Gambhir
Siddhnath Sudhanshu
Priyanka Srivastava
Archana Rai
Vijayalakshmi Bhatia
Shubha R. Phadke
Publication date
01-12-2017
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 12/2017
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-017-2430-1

Other articles of this Issue 12/2017

Indian Journal of Pediatrics 12/2017 Go to the issue

Review Article

Retinoblastoma

Original Article

Immunological and Virological Responses to Highly Active Antiretroviral Therapy in HIV-1 Infected Children

Scientific Letter

Cerebral Phaeohyphomycosis: Fulminant Encephalitic Presentation

Original Article

Cost of Treatment of Febrile Acute Respiratory Infection (FARI) Among Under-Five Children Attending Health Facilities of Ballabgarh, Haryana

Scientific Letter

Look Up to Diagnose Down!

Scientific Letter

Juvenile Myelomonocytic Leukemia: Profile and Outcome