Affiliations: Department of General Pediatrics, Division of
Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg,
Germany
Note: [] Corresponding author: Christian Staufner, Department of General
Pediatrics, Division of Inherited Metabolic Diseases, University Hospital
Heidelberg, Heidelberg, Germany. Tel.: +49 6221 38377; Fax: +49 6221 6391;
E-mail: Christian.Staufner@ med.uni-heidelberg.de
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.
