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Comment
. 2020 Mar;22(3):654-655.
doi: 10.1038/s41436-019-0677-9. Epub 2019 Oct 22.

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

Fabian Baertling  1 , Matias Wagner  2   3   4 , Theresa Brunet  2 , Hemmen Sabir  1 , Dagmar Wieczorek  5 , Thomas Meitinger  2   3 , Thomas Meissner  1 , Felix Distelmaier  6
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Free article
Comment

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

Fabian Baertling et al. Genet Med. 2020 Mar.
Free article
No abstract available

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Comment in

  • Response to Baertling et al.
    Häberle J, Rüfenacht V. Häberle J, et al. Genet Med. 2020 Mar;22(3):656. doi: 10.1038/s41436-019-0678-8. Epub 2019 Oct 22. Genet Med. 2020. PMID: 31641284 No abstract available.

Comment on

References

    1. Van Karnebeek CD, Sly WS, Ross CJ, et al. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet. 2014;94:453–61. - DOI
    1. Diez-Fernandez C, Rüfenacht V, Santra S, et al. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genet Med. 2016;18:999–1000. - DOI

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