Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Carbonic anhydrase VA deficiency CA-VA deficiency CAII deficiency |
| Number of Symptoms | 21 |
| OrphanetNr: | 401948 |
| OMIM Id: |
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive 26913920 [IBIS] |
| Age of onset: |
Neonatal Infancy 26913920 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of branched-chain amino acid metabolism
-Rare genetic disease Disorder of urea cycle metabolism and ammonia detoxification -Rare genetic disease Gluconeogenesis disorder -Rare genetic disease |
Comment:
| Carbonic anhydrase VA deficiency is caused by mutations in the CA5A gene encoding the carbonic anhydrase VA located in mitochondria. Case study with four children validated three different CA5A alterations and reported overlapping but not identical symptoms and biochemical abnormalities (PMID:24530203). CA5A-deficiency should be considered among urea cycle defects, organic acidurias, and PC deficiency in the differential diagnosis for hyperammonemia and hyperlactatemia in the neonate and young child (PMID:24530203). Since CA5A is specifically localized in beta cells, CA5A might be functionally linked to the regulation of insulin secretion (PMID:9733757). |
Symptom Information:
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(HPO:0002013) | Vomiting | 24530203 | IBIS | 191 / 7739 | ||
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(HPO:0002151) | Increased serum lactate | Very frequent [IBIS] | 100% (n=14) | 26913920 | IBIS | 92 / 7739 |
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(HPO:0001942) | Metabolic acidosis | 24530203 | IBIS | 81 / 7739 | ||
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(HPO:0001950) | Respiratory alkalosis | 24530203 | IBIS | 7 / 7739 | ||
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(HPO:0001824) | Weight loss | 24530203 | IBIS | 42 / 7739 | ||
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(HPO:0001943) | Hypoglycemia | 24530203 | IBIS | 131 / 7739 | ||
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(HPO:0003572) | Low plasma citrulline | 24530203 | IBIS | 7 / 7739 | ||
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(HPO:0005961) | Hypoargininemia | 24530203 | IBIS | 7 / 7739 | ||
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(HPO:0003217) | Hyperglutaminemia | 24530203 | IBIS | 9 / 7739 | ||
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(HPO:0003348) | Hyperalaninemia | 24530203 | IBIS | 19 / 7739 | ||
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(HPO:0008358) | Hyperprolinemia | 24530203 | IBIS | 5 / 7739 | ||
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(HPO:0001671) | Abnormality of the cardiac septa | 24530203 | IBIS | 55 / 7739 | ||
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(HPO:0003228) | Hypernatremia | 24530203 | IBIS | 12 / 7739 | ||
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(HPO:0001987) | Hyperammonemia | Very frequent [IBIS] | 100% (n=14) | 26913920 | IBIS | 50 / 7739 |
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(HPO:0008936) | Muscular hypotonia of the trunk | 24530203 | IBIS | 77 / 7739 | ||
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(HPO:0001298) | Encephalopathy | Very frequent [IBIS] | 24530203 | IBIS | 72 / 7739 | |
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(HPO:0011443) | Abnormality of coordination | 24530203 | IBIS | 1 / 7739 | ||
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(HPO:0001254) | Lethargy | 24530203 | IBIS | 104 / 7739 | ||
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(HPO:0000952) | Jaundice | 24530203 | IBIS | 105 / 7739 | ||
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(HPO:0002919) | Ketonuria | Very frequent [IBIS] | 100% (n=14) | 26913920 | IBIS | 18 / 7739 |
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(HPO:0002789) | Tachypnea | 24530203 | IBIS | 48 / 7739 |
Associated genes:
| CA5A; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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