Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders

• DOI: 10.1007/s10545-013-9624-0
• Publication Date: 2013-06-18T16:02:59Z
• Authors: Corinne M. Rüegger; Martin Lindner; Diana Ballhausen; Matthias R. Baumg...; Skadi Beblo; Anibh Das; Matthias Gautschi; Esther M. Glahn; Sarah C. Grünert; Julia Hennermann; Michel Hochuli; Martina Huemer; Daniela Karall; Stefan Kölker; Robin H. Lachmann; Amelie Lotz‐Havla; Dorothea Möslinger; Jean‐Marc Nuoffer; Barbara Plecko; Frank Rutsch; René Santer; Ute Spiekerkoetter; Christian Staufner; Tamar Stricker; Frits A. Wijburg; Monique Williams; Peter Burgard; Johannes Häberle
• Keywords: Ornithine transcarbamylase deficiency; Hyperammonemia

Abstract Urea cycle disorders (UCDs) are inherited of ammonia detoxification often regarded as mainly relevance to pediatricians. Based on an increasing number case studies it has become obvious that a significant UCD patients affected by their disease in non‐classical way: presenting outside the newborn period, following mild course, with unusual clinical features, or asymptomatic only biochemical signs UCD. These surviving into adolescence and adulthood, rendering this group diseases clinically relevant adult physicians well In preparation for international workshop we collected data all UCDs treated participants 20 European metabolic centres. Information was cohort 208 50% which were ≥ 16 years old. The largest subgroup (121 patients) had X‐linked ornithine transcarbamylase deficiency (OTCD) whom 83 female 29% these asymptomatic. index patients, there mean delay from first symptoms diagnosis 1.6 years. Cognitive impairment present 36% including OTCD (in 31%) those 41 identified presymptomatically positive screening 12%). conclusion, presentations require interest care have high risk neurological complications. To improve outcome UCDs, greater awareness health professionals importance hyperammonemia ultimately avoidance still long correctly diagnose is crucial.