Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis

Konanki, Ramesh; Akella, Radha Rama Devi; Panigrahy, Nalinikanta; Chirla, Dinesh; Mohanlal, Smilu; Lankala, Reena

doi:10.1016/j.braindev.2020.04.007

Cited by 7 publications

(17 citation statements)

References 7 publications

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“…The ketonuria and hyperlactatemia at the time of hyperammonaemia seen in this patient are in keeping with other case reports of CA‐VA deficiency, as are the results of metabolic biochemistry investigations 1–7 . However the number, relative severity and age at occurrence of the hyperammonemic episodes are distinct from these previous reports.…”

Section: Case Presentation and Discussionsupporting

confidence: 90%

“…However the number, relative severity and age at occurrence of the hyperammonemic episodes are distinct from these previous reports. The majority of previously described CA‐VA deficiency patients had one metabolic crisis without recurrence 2–7 . The highest number of crises reported in any patient was 3 and any second and third crises were invariably less severe than the initial ones 2,4 .…”

Section: Case Presentation and Discussionmentioning

confidence: 96%

“…The majority of previously described CA‐VA deficiency patients had one metabolic crisis without recurrence 2–7 . The highest number of crises reported in any patient was 3 and any second and third crises were invariably less severe than the initial ones 2,4 . A suggested explanation for this was compensation for CA‐VA deficiency by maturation of the CA‐VB enzyme isoform 2 .…”

Section: Case Presentation and Discussionmentioning

confidence: 99%

“…In patients with multiple decompensations, the first event was invariably the most severe 2 . Subsequent reports of CA‐VA deficiency have described either one or two episodes of hyperammonaemia in each affected patient 3–7 . One of these articles did however feature a patient with recurrent hypoglycemia 4 .…”

Section: Introductionmentioning

confidence: 99%

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Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency

et al. 2022

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Carbonic anhydrase VA deficiency is a recently described inherited cause of paediatric hyperammonaemia. Most published cases describe patients with only one episode of hyperammonaemia whilst others report patients who had up to three metabolic crises with the first invariably being the most severe. We describe a patient with carbonic anhydrase VA deficiency who experienced 7 hyperammonemic episodes over a 3‐year period, up to age 5 years 9 months. These episodes did not clearly decrease in severity over time. This report expands the clinical phenotype and the age window for metabolic crises associated with this condition.

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Section: Case Presentation and Discussionsupporting

confidence: 90%

Section: Case Presentation and Discussionmentioning

confidence: 96%

Section: Case Presentation and Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency

et al. 2022

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“…In carbonic anhydrase deficiency, there is impaired production of bicarbonate which is a substrate for CPS-1, propionyl CoA carboxylase, pyruvate carboxylase and 3-methyl crotonyl CoA carboxylase. Hence, apart from hyperammonemia, there will be lactic acidosis, ketonuria, hypoglycemia, respiratory alkalosis and metabolic acidosis[ 31 ]. Portosystemic shunts can be diagnosed with ultrasound Doppler or computed tomography.…”

Section: Ucdmentioning

confidence: 99%

Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects

Ravindranath¹,

Sarma²

2022

WJH

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Fatty acid oxidation defects (FAOD) and urea cycle defects (UCD) are among the most common metabolic liver diseases. Management of these disorders is dotted with challenges as the strategies differ based on the type and severity of the defect. In those with FAOD the cornerstone of management is avoiding hypoglycemia which in turn prevents the triggering of fatty acid oxidation. In this review, we discuss the role of carnitine supplementation, dietary interventions, newer therapies like triheptanoin, long-term treatment and approach to positive newborn screening. In UCD the general goal is to avoid excessive protein intake and indigenous protein breakdown. However, one size does not fit all and striking the right balance between avoiding hyperammonemia and preventing deficiencies of essential nutrients is a formidable task. Practical issues during the acute presentation including differential diagnosis of hyperammonemia, dietary dilemmas, the role of liver transplantation, management of the asymptomatic individual and monitoring are described in detail. A multi-disciplinary team consisting of hepatologists, metabolic specialists and dieticians is required for optimum management and improvement in quality of life for these patients.

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A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

Al‐Thihli,

Al Hashmi,

Al Balushi

et al. 2024

JIMD Reports

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Carbonic anhydrase VA (CA‐VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. 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.(Trp20*) in CA5A. The reported patients show significant intrafamilial and interfamilial variability, and display atypical clinical features. Two adult patients were asymptomatic, 7/18 patients had recurrent hyperammonemia, 7/18 patients developed variable degree of developmental delay, 9/11 patients had hyperCKemia, and 7/18 patients had failure to thrive. Microcephaly was seen in three patients and one patient developed a metabolic stroke. The same variant had been reported already in a single South Asian patient presenting with neonatal hyperammonemic encephalopathy and subsequent development of seizures and developmental delay. This report highlights the limitations of current understanding of the pathomechanisms involved in this disorder, and calls for further evaluation of the possible role of genetic modifiers in this condition.

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Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis

Cited by 7 publications

References 7 publications

Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency

Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency

Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

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