Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome-Reference-Cited by-同舟云学术

Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome

Published:2020-10 Issue:1 Volume:57 Page:9-14
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Marwaha Ashish¹,Ibrahim Judy²,Rice Taylor³,Hamwi Nadia²,Rupar Charles Anthony⁴⁵⁶,Cresswell David⁷,Prasad Chitra⁶,Schulze Andreas¹⁸⁹^ORCID

Affiliation:

1. Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada

2. Department of Academic Affairs Tawam Hospital Al Ain Abu Dhabi United Arab Emirates

3. Schulich School of Medicine & Dentistry London Ontario Canada

4. Department of Biochemistry Western University London Ontario Canada

5. Department of Pathology and Laboratory Medicine Western University London Ontario Canada

6. Department of Pediatrics Western University London Ontario Canada

7. Department of Pediatrics Grand River Hospital Kitchener Ontario Canada

8. Department of Pediatrics University of Toronto Toronto Ontario Canada

9. Department of Biochemistry University of Toronto Toronto Ontario Canada

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12171

Reference6 articles.

1. Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

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

3. Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia;Baertling F;Genet Med,2020

4. Carglumic acid for the treatment ofN-acetylglutamate synthase deficiency and acute hyperammonemia

5. Hyperammonemias and Related Disorders

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1. A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion;American Journal of Medical Genetics Part A;2024-07

2. A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency;JIMD Reports;2024-05-08

3. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism;Avery's Diseases of the Newborn;2024

4. An Extremely Rare Cause of Hyperammonemic Encephalopathy in an Infant;Indian Journal of Pediatrics;2023-08-23

5. Identification of novel candidate biomarkers for acute myocardial infarction by the Olink proteomics platform;Clinica Chimica Acta;2023-08