1. Mitchell and Fukao. Inborn Errors of Ketone Body Metabolism, in: C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2001, pp. 2344-2347.
2. Pasquali et al. Biochemical Findings in Common Inborn Errors of Metabolism. Am J Med Genet C 2006, 142C:64-76.
3. Mrazova et al. Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis 2005, 28:235-236.
4. Fukao et al. Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: Effects of amino acid substitutions on tertiary structure. Mol Genet Metab 2002, 75:235-243. 5. Fukao et al. Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide. Hum Mutat 2003, 21(6):587-92.
6. Fukao et al. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation defined patients. Mol Genet Metab 2001, 72:109-114.
7. Sakurai et al. Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure. Mol Genet Metab 2007, 90(4):370-378.
8. Zhang et al. Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients with "Mild" Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay with Tiglyl-CoA. Ped Res 2004, 56(1):60-64.
- Confirmation of a clinical/biochemical diagnosis of ketothiolase deficiency
- Carrier testing in adults with a family history of ketothiolase deficiency
Analytical Sensitivity: ~99%
Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Plasma Amino Acid (AA) Analysis, Urine Organic Acids (OA), and Plasma Acylcarnitine Profiles (AR) are used in the diagnoses of a patient with BKTD. Urine Acylcarnitine and Acylglycine Profiles can also be helpful.
- Custom Diagnostic Mutation Analysis (KM) is available to family members if mutations are identified by sequencing.
- A Deletion/Duplication Assay is available separately for individuals where mutations are not identified by sequence analysis. Refer to the test requisition or contact the laboratory for more information.
- Prenatal testing is available for known familial mutations only. Please call the Laboratory Genetic Counselor before collecting a fetal sample.