Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy
| Autor: | Mustafa Kılıç, David Stephen Cram, Ebru Yılmaz Keskin, Gonca Sandal, Deniz Torun, Asburce Olgac, Çiğdem Seher Kasapkara, Johannes Häberle |
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| Přispěvatelé: | University of Zurich, Olgac, Asburce |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty genetic structures Endocrinology Diabetes and Metabolism 610 Medicine & health Disease 030105 genetics & heredity Hypoglycemia Gastroenterology 03 medical and health sciences Lethargy Endocrinology Internal medicine medicine cardiovascular diseases 2735 Pediatrics Perinatology and Child Health chemistry.chemical_classification business.industry Metabolic acidosis Hyperammonemia medicine.disease 1310 Endocrinology 2712 Endocrinology Diabetes and Metabolism 030104 developmental biology Enzyme CARBONIC ANHYDRASE VA chemistry 10036 Medical Clinic Inborn error of metabolism Pediatrics Perinatology and Child Health cardiovascular system business |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 33:1349-1352 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2020-0117 |
| Popis: | Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene. Case presentation Fifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis. Conclusions We report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18 months. |
| Databáze: | OpenAIRE |
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