Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia
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DOI: 10.1038/s41436-019-0677-9
Abstract: To the Editor: Carbonic anhydrase VA deficiency (OMIM 615751) is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises in infancy and early childhood. Biallelic variants in CA5A have been… read more here.
Keywords: carbonic anhydrase; treatment; metabolic decompensation; anhydrase deficiency ... See more keywords
Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1675781
Abstract: Carbonic anhydrase (CA) II deficiency results in an uncommon type of autosomal recessive sclerosing bone dysplasia with renal tubular acidosis and intracerebral calcification. We report a classic case of CA II-associated osteopetrosis with a previously… read more here.
Keywords: anhydrase deficiency; report; deficiency; carbonic anhydrase ... See more keywords