| BETA-KETOTHIOLASE DEFICIENCY; ALPHA-METHYLACETOACETIC ACIDURIA | |
| ACIDEMIA, 3-KETOTHIOLASE DEFICIENCY, 3-OXOTHIOLASE DEFICIENCY, T2 DEFICIENCY, MITOCHONDRIA | |
|
203750
OMIM = Online Mendelian Inheritance of Men | |
|
134 | |
| Acetyl-CoA acetyltransferase, mitochondrial | |
| rare (>100 cases) autosomal recessive mutation in the acetyl-CoA acetyltransferase-1 gene (ACAT1) | |
| Laboratory findings | 2-Butanone inc (urine) 2-Methylacetoacetic acid normal/inc (urine) Ketone bodies (urine) inc (urine) Tiglylglycine inc (urine) 2-Methyl-3-hydroxybutyric acid inc (urine) 3-Hydroxybutyric acid normal/inc (urine) 3-Hydroxyisovaleric acid inc (urine) 3-Hydroxyisovalerylcarnitine (C5-OH) inc (blood) 3-Hydroxypropionic acid inc (urine) 3-Methylcrotonylglycine inc (urine) 6-Methyluracil inc (urine) Acetoacetic acid inc (urine) Acylcarnitine (C2) inc (urine) Ammonia normal/inc (blood) D-Glucose normal/dec (serum) Glycine normal/inc (plasma) pCO2 normal/dec (blood) Tiglyl/3-Methylcrotonylcarnitine (C5:1) inc (blood) Uric acid normal/inc (plasma) |
| Symptoms | coma ketosis, ketoacidosis acetone-like odor basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomyopathy, hypertrophic failure to thrive feeding difficulties, poor feeding headache (severe, recurrent or occipital, migraine) hepatomegaly (large liver) hypertonia, spasticity irritability lethargy, drowsiness, apathy liver involvement or dysfunction mental retardation metabolic acidosis motor retardation respiratory distress seizures tachypnea, hyperpnea, dyspnea, hyperventilation vomiting Amino acids, plasma cardiomyopathy chorea or athetosis diarrhea dystonia episodic course (clinical symptoms) hyperammonemia hypoglycemia hypotonia MRI, brain, abnormalities [-] no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal Organic acids, urine strokelike episodes unusual odor / odour |