| CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD | |
|
615751
OMIM = Online Mendelian Inheritance of Men | |
|
401948 | |
| Carbonic anhydrase 5A, mitochondrial | |
| 4.2.1.1 | |
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 |