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A founder mutation in causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
JIMD Rep
July 2024
Genetic & Developmental Medicine Clinic, Department of Genetics Sultan Qaboos University Hospital Muscat Oman.
Carbonic anhydrase VA (CA-VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA-VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.
View Article and Find Full Text PDFAn asiatic acid derived trisulfamate acts as a nanomolar inhibitor of human carbonic anhydrase VA.
Steroids
May 2024
Martin-Luther University Halle-Wittenberg, Organic Chemistry, Kurt-Mothes-Dtr. 2 D-06120 Halle (Saale), Germany. Electronic address:
This investigation delves into the inhibitory capabilities of a specific set of triterpenoic acids on diverse isoforms of human carbonic anhydrase (hCA). Oleanolic acid (1), maslinic acid (2), betulinic acid (3), platanic acid (4), and asiatic acid (5) were chosen as representative triterpenoids for evaluation. The synthesis involved acetylation of parent triterpenoic acids 1-5, followed by sequential reactions with oxalyl chloride and benzylamine, de-acetylation of the amides, and subsequent treatment with sodium hydride and sulfamoyl chloride, leading to the formation of final compounds 21-25.
View Article and Find Full Text PDFHyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene.
Int J Mol Sci
November 2022
Federal Research Centre of Nutrition and Biotechnology, Moscow 115446, Russia.
Article Synopsis
- Hyperammonemia caused by carbonic anhydrase VA deficiency is a rare but severe genetic disorder linked to mutations in the CA5A gene, often resulting in unexplained hyperammonemia in newborns and infants.
- A case study details a 5-year-old patient with a specific mutation in the CA5A gene, previously identified in a Russian boy, highlighting its occurrence in that population.
- The study suggests that targeted genetic testing for this mutation should be implemented in neonatal intensive care units to allow for early diagnosis and intervention.
Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
J Physiol
January 2023
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Article Synopsis
- Carbonic anhydrase V (CA V) is a mitochondrial enzyme found in mammals, with two forms in mice (CA VA and CA VB) that have distinct functions in ammonia detoxification and metabolic processes.
- CA VA is crucial for detoxifying ammonia and providing bicarbonate for biosynthesis, while CA VB's role is less understood but important for spermatogenesis.
- Mutations in CA5A lead to metabolic issues in children, and early detection of hyperammonaemia can allow effective treatment with N-carbamyl-l-glutamate, making CA VA deficiency a treatable metabolic condition.
A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene.
Epilepsy Behav Rep
November 2022
Division of Pediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal-recessive inborn error of metabolism. It is imperative to consider CA-VA deficiency as a differential diagnosis in neonates with hyperammonemia not attributed to defects in urea cycle enzymes, organic acid disorders, hypoglycemia, and primary hyperlactatemia. The case described in this report had a metabolic crisis on day three of life with biochemical abnormalities demonstrating hypoglycemia, elevated ammonia, and lactate.
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