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Journal of Pediatric Biochemistry 2014; 04(01): 005-010
DOI: 10.1055/s-0036-1586455
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Variability of OTC deficiency in heterozygous carriers: Case report of a family

Christian Staufner   1
a   Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
,
Kathrin Zangerl   1
a   Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
,
Georg Friedrich Hoffmann
a   Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
,
Stefan Kölker
a   Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
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Publication History

28 January 2014

28 January 2014

Publication Date:
03 August 2016 (online)

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Abstract

We present three case reports of a family affected by ornithine transcarbamylase deficiency (OTC-D), the most common urea cycle disorder. The case reports demonstrate the variable clinical phenotype of OTC-D in heterozygous carriers, even in one family. Based on these reports, OTC-D and its biochemical hallmarks are discussed.

Keywords

OTC deficiency - late onset OTC deficiency - urea cycle disorder - metabolic stroke

1 Authors contributed equally to the article.