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Neuropediatrics 2018; 49(06): 369-372
DOI: 10.1055/s-0038-1667171
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

Momen Almomen
1   Section of Neurology, Department of Pediatrics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada
,
Graham Sinclair
2   Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada
,
Sylvia G. Stockler-Ipsiroglu
3   Division of Biochemical Diseases, Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada
,
Gabriella A. Horvath
3   Division of Biochemical Diseases, Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada
› Author Affiliations
Further Information

Publication History

12 April 2018

13 June 2018

Publication Date:
25 July 2018 (online)

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Abstract

Pyruvate carboxylase (PC) is a biotin-containing enzyme that is responsible for the adenosine triphosphate-dependent carboxylation of pyruvate to oxaloacetate, a key intermediate in the tricarboxylic acid cycle. PC deficiency (OMIM 266150) is a rare autosomal recessive metabolic disease, causing elevation of pyruvate, lactate, and alanine. Three types of PC deficiency have been described in the literature; A, B, and C. Type A PC deficiency, also called infantile or North American type, is characterized by infantile onset acidosis, failure to thrive, and developmental delay. The second subtype or type B, the neonatal or French form, presents usually in the neonatal period, mostly in the first 72 hours of life with severe lactic acidosis, truncal hypotonia, and seizures. The third type is called type C, is extremely rare with few cases published in the literature. In this case report, we present an 11-month-old girl who presented with acute flaccid paralysis, lethargy, and constipation with elevated ketones and lactate. She was confirmed genetically and biochemically to have PC deficiency type C. The patient's unusual presentation expands the clinical phenotype of this extremely rare disease.

Keywords

pyruvate carboxylase - flaccid paralysis - ketosis - lactic acidosis - hypotonia

Statement of Location

This work was done in BC Children's Hospital, University of British Columbia


 

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