Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Autor: Alberto Burlina, Johannes Häberle, René Santer, Pascale de Lonlay, Trine Tangeraas, Saikat Santra, Carmen Diez-Fernandez, Clara D.M. van Karnebeek, Martin Lindner, Caroline Unsinn, Allan M. Lund, Véronique Rüfenacht

Publikováno v: Genetics in medicine, 18(10), 991-1000. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Europe PubMed Central

Four mitochondrial metabolic liver enzymes require bicarbonate which is provided by the carbonic anhydrase isoforms VA (CAVA) and VB (CAVB). Defective hepatic bicarbonate production leads to a unique combination of biochemical findings: hyperammonemi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd26b6023fb6d7ea1d4105740610c4a
https://doi.org/10.1038/gim.2015.201

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

Autor: Eva Thimm, Jörg Rennecke, Vassili Valayannopoulos, Jens Derbinski, Sebene Mayorandan, Pascale de Lonlay, Anibh M. Das, Vassiliki Konstantopoulou, Skadi Beblo, Caroline Unsinn, Alberto Burlina, Georg F. Hoffmann, Johannes Häberle

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases

Background Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eace6cde9731edd4f260e0eab03c3885
http://europepmc.org/articles/PMC4991093