| ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D | |
|
614055
OMIM = Online Mendelian Inheritance of Men | |
|
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very rare | |
| Laboratory findings | Ammonia normal/inc (blood) 2-Ethylhydracrylic acid normal/inc (urine) 2-Methyl-3-hydroxybutyric acid inc (urine) 2-Methylacetoacetic acid normal/inc (urine) 3-Hydroxybutyric acid normal/inc (urine) Acetoacetic acid normal/inc (urine) Dicarboxylic acids normal/inc (urine) Ketone bodies (urine) inc (urine) L-Lactic acid inc (serum) Pyruvic acid inc (serum) Tiglylglycine normal/inc (urine) |
| Symptoms | ataxia chorea or athetosis failure to thrive hypoglycemia hypotonia intellectual disability/intellectual developmental disorder lethargy, drowsiness, apathy metabolic acidosis onset, childhood onset, infancy psychomotor retardation seizures tachypnea, hyperpnea, dyspnea, hyperventilation |