Ask about this productRelated genes to: CA5A Blocking Peptide
- Gene:
- CA5A NIH gene
- Name:
- carbonic anhydrase 5A
- Previous symbol:
- CA5
- Synonyms:
- CAV, CAVA
- Chromosome:
- 16q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-10-15
- Date modifiied:
- 2019-04-23
Related products to: CA5A Blocking Peptide
Related articles to: CA5A Blocking Peptide
- Carbonic anhydrase VA (CA5A) deficiency (OMIM 615751) is an ultra-rare inborn error of metabolism, presenting in newborns, infants, and young children with a pentad of encephalopathy, hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia. We present two cases: a case of a healthy Bedouin infant admitted with hyperammonemic encephalopathy that required urgent hemodialysis, and her younger sibling, who presented with a milder episode. Molecular analysis confirmed the diagnosis of CA5A deficiency due to a homozygous missense variant in the gene. Both patients had a favorable outcome with continued normal development. These were the first identified cases of CA5A deficiency in the Bedouin population, emphasizing the importance of a high index of suspicion, early genetic consultation and diagnosis, and prompt treatment at the earliest possible stage of a hyperammonemic crisis. - Source: PubMed
Publication date: 2026/05/01
Abelson NitzanKristal EyalHershkovitz EliWormser OhadDolgin VadimAmar ShirlyStaretz-Chacham Orna - Carbonic anhydrase VA deficiency is a rare autosomal recessive disorder caused by biallelic mutations in the CA5A gene. Patients present with acute metabolic decompensation including hyperammonemia in infancy albeit a good outcome. - Source: PubMed
Publication date: 2026/02/17
Bin Hadyan Maryam FSaleh Mohammed AAldalaqan SaadMushiba Aziza MAlasmari Ali MFaqeih Eissa APeer-Zada Abdul A - Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal recessive inborn error of metabolism characterized by variable neonatal onset metabolic acidosis, hyperammonemia, lactic acidosis, and ketonuria. To date, there have been 41 cases of CA-VA deficiency described in the literature. Here, we report the clinical history and biochemical laboratory findings of a newborn female with a novel homozygous missense variant in . This case adds to the literature of biochemical findings and ancestral diversity in individuals with CA-VA deficiency. - Source: PubMed
Publication date: 2025/10/04
Keehan LauraNull ElizabethChilakamarri LekhaCarter ChristopherLee ChungEnns Gregory MMatalon Dena R - Imaging characteristics of the secondary urea cycle disorder caused by carbonic anhydrase VA (CA-VA) deficiency remain poorly understood. This study aimed to evaluate the neuroimaging features associated with CA-VA deficiency through a collaborative multicenter investigation. - Source: PubMed
Publication date: 2026/01/05
Fragoso Diego CardosoAl-Ajmi EimanCardenas Agustin MQuijada-Fraile PilarBiswas AsthikSudhakar SniyaD'Arco FeliceMankad KshitijAl-Thihli KhalidBodamer OlafO'Donnell-Luria AnneYang EdwardRodan LanceAl-Murshedi FathiyaAlves Cesar Augusto P F - Carbonic anhydrase VA (CA-VA) deficiency is a rare mitochondrial disorder affecting bicarbonate-dependent metabolic pathways. It commonly presents in neonates with hyperammonemia, lactic acidosis, and metabolic crisis, often mimicking more prevalent urea cycle and organic acid disorders. This rare metabolic disorder has been reported across different populations, with cases documented worldwide. We report the case of a three-day-old full-term Indian female neonate presenting with lethargy and poor feeding. Initial labs revealed hyperammonemia, severe lactic acidosis, hypoglycemia, and ketosis. Despite ammonia scavenger therapy, hyperammonemia persisted, necessitating continuous renal replacement therapy. Metabolic workup suggested mitochondrial dysfunction. Genetic testing identified a homozygous exon 6 deletion in the CA5A gene, confirming CA-VA deficiency. She was discharged on carglumic acid and supplements, with clinical and biochemical improvement. CA-VA deficiency should be included in the differential diagnosis of neonatal metabolic decompensation, particularly in South Asian infants. Early intervention can lead to favorable outcomes, underscoring the importance of prompt metabolic and genetic evaluation. - Source: PubMed
Publication date: 2025/08/23
Baheer Abdulwahhab SajaAhmed AmnaBen Omran Tawfeg