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ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D
614055
OMIM = Online Mendelian Inheritance of Men
---
6q25.3
very rare

Laboratory findingsAmmonia 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