Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia

Affiliations

• ¹ Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany.
• ² Institute of Human Genetics, Technical University München, Munich, Germany.
• ³ Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
• ⁴ Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
• ⁵ Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
• ⁶ Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany. felix.distelmaier@med.uni-duesseldorf.de.