Beta-Ketothiolase Deficiency

Mitochondrial acetoacetyl-CoA thiolase deficiency, commonly known as ß-ketothiolase deficiency, is an inborn error of isoleucine and ketone-body metabolism. This disorder is characterized by acute episodes of ketoacidosis and by the excretion of specific organic acids in urine. The attacks may be induced by infections or a high intake of protein. Patients can develop severe life-threatening episodes associated with coma, confusion or lethargy that can lead to developmental delay. The onset is usually in late infancy or childhood and severity of symptoms is variable. A number of patients have been reported with mental retardation or speech problems; however, affected asymptomatic siblings have also been diagnosed. Given the heterogeneity of severity at presentation, individual treatment programs are necessary; however, many patients have had a favorable outcome after diagnosis with treatment

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH


4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
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