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

Ordering

354
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
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*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Merinero, et al., (1987) J Inher Metab Dis 10 (Suppl 2):2769
  2. Fukao et al., (1995) Hum Mutat 5:113-120
  3. Fukao et al., (2007) Mol Genet Metab 92:375-378
  4. Zhang et al., (2004) Pediatr Res 56(1) :60-4
  5. Fukao et al., (2001) Mol Genet Metab 72 :109- 114