Research & Literature

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

Diez-Fernandez C, Rüfenacht V, Santra S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2016; (18(10)):991-1000 doi:10.1038/gim.2015.201.

Guidelines for acute management of hyperammonemia in the Middle East region.

Alfadhel M, Mutairi FA, Makhseed N, et al.

Therapeutics and clinical risk management 2016; (12()):479-87 doi:10.2147/TCRM.S93144.

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

Siddiq S, Wilson BJ, Graham ID, et al.

Orphanet journal of rare diseases 2016; (11(1)):168 doi:10.1186/s13023-016-0548-2.

The Role of Carbonic Anhydrase in Hepatic Glucose Production.

Ismail IS

Current diabetes reviews 2018; (14(2)):108-112 doi:10.2174/1573399812666161214122351.

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.

Zeltner NA, Welsink-Karssies MM, Landolt MA, et al.

Orphanet journal of rare diseases 2019; (14(1)):248 doi:10.1186/s13023-019-1236-9.

Metabolic Disorders Presenting with Seizures in the Neonatal Period.

Brimble E, Ruzhnikov MRZ

Seminars in neurology 2020; (40(2)):219-235 doi:10.1055/s-0040-1705119.

Perioperative management of children with urea cycle disorders.

Del Río C, Martín-Hernández E, Ruiz A, et al.

Paediatric anaesthesia 2020; (30(7)):780-791 doi:10.1111/pan.13905.

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

Konanki R, Akella RRD, Panigrahy N, et al.

Brain & development 2020; (42(7)):534-538 doi:10.1016/j.braindev.2020.04.007.

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.

Olgac A, Kasapkara CS, Kilic M, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(10)):1349-1352.

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism.

Rajasekar P, Gannavarapu S, Napier M, et al.

Molecular genetics and metabolism reports 2020; (25()):100654 doi:10.1016/j.ymgmr.2020.100654.

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

Marwaha A, Ibrahim J, Rice T, et al.

JIMD reports 2021; (57(1)):9-14 doi:10.1002/jmd2.12171.

Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.

Kisa PT, Uzun OU, Gunduz M, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021; (28(8)):702-706 doi:10.1016/j.arcped.2021.09.008.

Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.

Eminoğlu FT, Öncül Ü, Kahveci F, et al.

Pediatric nephrology (Berlin, Germany) 2022; (37(6)):1387-1397 doi:10.1007/s00467-021-05329-9.

Metabolic Emergency in Flight.

Hurst IA, Calhoun A, Mehren R, et al.

Air medical journal 2022; (41(1)):141-146 doi:10.1016/j.amj.2021.10.014.

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

Bélanger-Quintana A, Arrieta Blanco F, Barrio-Carreras D, et al.

Nutrients 2022; (14(13)) doi:10.3390/nu14132755.

Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency.

Stockdale C, Bowron A, Appleton M, et al.

JIMD reports 2022; (63(6)):536-539 doi:10.1002/jmd2.12322.

A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene.

Mani Urmila N, Kewalramani D, Balakrishnan U, Manokaran RK

Epilepsy & behavior reports 2022; (20()):100573 doi:10.1016/j.ebr.2022.100573.

Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.

Aspatwar A, Supuran CT, Waheed A, et al.

The Journal of physiology 2023; (601(2)):257-274 doi:10.1113/JP283579.

OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing.

Hornak M, Bezdekova K, Kubicek D, et al.

Journal of assisted reproduction and genetics 2024; (41(1)):185-192 doi:10.1007/s10815-023-02998-3.

A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.

Mathew RP, Ranya Raghavendra P, Disha B, et al.

American journal of medical genetics. Part A 2024; (194(11)):e63809 doi:10.1002/ajmg.a.63809.

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

Al-Thihli K, Al Hashmi N, Al Balushi A, et al.

JIMD reports 2024; (65(4)):226-232 doi:10.1002/jmd2.12426.

Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.

Hanson B, Paternoster B, Povarnitsyn N, et al.

Extracellular vesicles and circulating nucleic acids 2023; (4(1)):3-26 doi:10.20517/evcna.2022.44.

Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.

Sherlock C, Clarke K, Jordan N

JIMD reports 2025; (66(2)):e70000 doi:10.1002/jmd2.70000.

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency.

Baheer Abdulwahhab S, Ahmed A, Ben Omran T

Cureus 2025; (17(8)):e90845 doi:10.7759/cureus.90845.

From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care.

Chandra B, Klemmensen M, Shayota BJ, Gropman AL

Pediatric neurology 2025; (173()):5-21 doi:10.1016/j.pediatrneurol.2025.08.017.

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.

Fragoso DC, Al-Ajmi E, Cardenas AM, et al.

AJNR. American journal of neuroradiology 2026; (47(1)):200-207 doi:10.3174/ajnr.A8948.

Carbonic anhydrase VA deficiency due to a novel CA5A variant.

Keehan L, Null E, Chilakamarri L, et al.

Molecular genetics and metabolism reports 2025; (45()):101259 doi:10.1016/j.ymgmr.2025.101259.

Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings.

Furuta Y, Tinker RJ, Grochowsky AR, Phillips JA

The American surgeon 2026; (92(5)):1463-1472 doi:10.1177/00031348251403079.

A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.

Bin Hadyan MF, Saleh MA, Aldalaqan S, et al.

Molecular genetics and metabolism reports 2026; (46()):101294 doi:10.1016/j.ymgmr.2026.101294.

Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.

Manoy S, Minto T, Demetriou K, et al.

JIMD reports 2026; (67(2)):e70076 doi:10.1002/jmd2.70076.

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.

Abelson N, Kristal E, Hershkovitz E, et al.

Genes 2026; (17(5)) doi:10.3390/genes17050537.

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

Chow AJ, Jordan I, Pallone N, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Examining the role of social workers within clinical metabolic genetics care.

Shim S, Cory D, Wixson G, et al.

Molecular genetics and metabolism reports 2026; (48()):101326 doi:10.1016/j.ymgmr.2026.101326.

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

Shurrab S, Mobarak A, Horvath G, et al.

JIMD reports 2026; (67(4)):e70102 doi:10.1002/jmd2.70102.

Mitochondrial carbonic anhydrases VA and VB: Metabolic roles and clinical significance.

Kalinin S, Parkkila S, Aspatwar A

The Enzymes 2026; (59()):105-130 doi:10.1016/bs.enz.2026.05.002.