Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To; Ca5ad

Description

Carbonic anhydrase VA deficiency is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement (summary by van Karnebeek et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To; Ca5ad

  • Global developmental delay
  • Generalized hypotonia
  • Encephalopathy
  • Acidosis
  • Muscular hypotonia of the trunk
  • Hypoglycemia
  • Lactic acidosis
  • Lethargy
  • Metabolic acidosis
  • Increased serum lactate
And another 8 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To; Ca5ad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Urea Cycle Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

ARG1, CPS1, SLC25A13, GLUD1, OTC, SLC25A15, NAGS, ASS1, ASL, SLC7A7, CA5A
Specificity
10 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Carbonic anhydrase VA deficiency (CA5A).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

CA5A
Specificity
100 %
Genes
100 %

Alternate names

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To; Ca5ad Is also known as ;ca-va deficiency.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36 METHYLMALONYL-CoA EPIMERASE DEFICIENCY EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM