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Summary
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO CA5AD
615751
OMIM = Online Medalian Inheritance of Men
401948
16q24.2
very rare
autosomal recessive
mutation in the CA5A gene
symptoms
coma
developmental delay
encephalopathy
hyperammonemia
hypoglycemia
ketosis, ketoacidosis
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
onset, childhood
onset, infancy
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Alanine +€mol/lplasma
Glutamine +€mol/lplasma
L-Lactic acid mmol/lserum
3-Hydroxybutyric acid mmol/mol Creaurine
Acetoacetic acid mmol/mol Creaurine
3-Hydroxypropionic acid mmol/mol Creaurine
3-Methylcrotonylglycine mmol/mol Creaurine
3-Hydroxyisovaleric acid mmol/mol Creaurine
Propionylglycine mmol/mol Creaurine
Methylcitric acid mmol/mol Creaurine
Fumaric acid mmol/mol Creaurine
Ammonia +€mol/lblood
Ketone bodies +++urine
Literature
Mollet J,et al.CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresAm J Hum Genet823623-6302008
Doimo M,et al.Genetics of coenzyme q10 deficiencyMol Syndromol53156-1622014
Lagier-Tourenne C,et al.ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyAm J Hum Genet823661-6722008
Lopez LC,et al.Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutationsAm J Hum Genet7961125-11292006