A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

Autor: Khalid Al‐Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al‐Habsi, Eiman Al‐Ajmi, Fatma Al‐Jasmi, Fathiya Al‐Murshedi

Publikováno v: JIMD Reports, Vol 65, Iss 4, Pp 226-232 (2024)

Abstract Carbonic anhydrase VA (CA‐VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no fu

Externí odkaz: https://doaj.org/article/276964319bbd44d69ab8f78f98a0174e

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Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis

Autor: Reena Lankala, Dinesh Kumar Chirla, Radha Rama Devi Akella, Smilu Mohanlal, Nalinikanta Panigrahy, Ramesh Konanki

Publikováno v: Brain and Development. 42:534-538

Background Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management. Case reports We present three infants from u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6291d4064232c05e2e08f759efce922c
https://doi.org/10.1016/j.braindev.2020.04.007

Design and development of 5-(4H)-oxazolones as potential inhibitors of human carbonic anhydrase VA: towards therapeutic management of diabetes and obesity

Autor: Afzal Hussain, Tabish Rehman, Aarfa Queen, Mohamed F. Alajmi, Amarjyoti Das Mahapatra, Parvez Khan, Imtaiyaz Hassan, Bhaskar Datta, Mohd Yousuf

Inhibitors of carbonic anhydrase (CAIs) hold promise for addressing various diseases, including cancer, diabetes, and other metabolic syndromes. CAV is the only isoform present in the mitochondria and is considered a potential drug target for obesity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8bf43fcd3db47fed62ee8202a2cbede

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