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Summary
BETA-KETOTHIOLASE DEFICIENCY
BETA-KETOTHIOLASE DEFICIENCY ACIDEMIA, 3-KETOTHIOLASE DEFICIENCY, 3-OXOTHIOLASE DEFICIENCY, T2 DEFICIENCY, MITOCHONDRIA
203750
OMIM = Online Medalian Inheritance of Men
134
11q22.3
  • avoidance of fasting
  • L-carnitine
  • low-protein diet
rare
autosomal recessive
mutation in the acetyl-CoA acetyltransferase-1 gene
clinical, biochemical and genetic heterogeneity 30 mutations of T2
symptoms
acetone-like odor
Amino acids, plasma
cardiomyopathy, hypertrophic
chorea or athetosis
coma
diarrhea
dystonia
failure to thrive
feeding difficulties, poor feeding
headache (severe, recurrent or occipital, migraine)
hyperammonemia
hypoglycemia
hypotonia
irritability
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
no clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
seizures
strokelike episodes
tachypnea, hyperpnea, dyspnea, respiratory distress
unusual odor / odour
vomiting
laboratory finding
pCO215.0045.0038.0042.00mm Hgblood
Tiglylglycine2.001000.000.002.00mmol/mol creatinineurinechild
2-Methyl-3-hydroxybutyric acid200.004400.000.0011.00mmol/mol creatinineurine
2-Methylacetoacetic acid0.00650.000.002.00mmol/mol creatinineurine
Butanon10.001000.000.004.00mmol/mol creatinineurine
Ammonia20.00200.0025.0080.00-Ámol/lblood
D-Glucose0.503.002.805.00mmol/lserum
6-Methyluracil1.007.00 mmol/mol creatinineurinechild
3-Hydroxybutyric acid0.000.001.006.00increasedurineinfancy
Acylcarnitine0.000.00 increasedurineno data
MRI, brain, abnormalities -
Ketone bodies0.000.00 +/++urineno data
Ketone bodies increasedblood
Glycine 100.00350.00normal/increasedplasma
Tiglyl/3-Methylcrotonylcarnitine (C5:1) increasedblood
3-Hydroxyisovalerylcarnitine (C5-OH) increasedblood
3-Hydroxyisovaleric acid0.000.00 increasedurineno data
3-Hydroxypropionic acid0.000.00 increasedurineno data
3-Methylcrotonylglycine0.000.00 increasedurineno data
Literature
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