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CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD

CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD
615751
OMIM = Online Mendelian Inheritance of Men
401948
Carbonic anhydrase 5A, mitochondrial
4.2.1.1
16q24.2
very rare
autosomal recessive
mutation in the CA5A gene
Laboratory findings    3-Hydroxybutyric acid inc (urine)
    3-Hydroxyisovaleric acid inc (urine)
    3-Hydroxypropionic acid inc (urine)
    3-Methylcrotonylglycine inc (urine)
    Acetoacetic acid inc (urine)
    Alanine inc (plasma)
    Ammonia normal/inc (blood)
    Fumaric acid inc (urine)
    Glutamine inc (plasma)
    Ketone bodies (urine) inc (urine)
    L-Lactic acid inc (serum)
    Methylcitric acid inc (urine)
    Propionylglycine inc (urine)
Symptoms    coma
    developmental delay
    encephalopathy
    hyperammonemia
    hypoglycemia
    ketosis, ketoacidosis
    lactic acidosis
    lethargy, drowsiness, apathy
    metabolic acidosis
    onset, childhood
    onset, infancy
    seizures
    tachypnea, hyperpnea, dyspnea, hyperventilation