No diagnostic metabolites are observed in the blood and urine sample from SCOT-deficient individuals, in contrast to most organic acidemias. Ketone bodies, acetoacetate, and 3-hydroxybutyrate are, however, elevated. SCOT deficiency is caused by mutations in the OXCT1 gene (5p14). It is inherited in an autosomal recessive manner. SCOT is a mitochondrial homodimer essential for ketone body utilization. Ketone bodies, which are produced in the liver, are an important source of energy for extrahepatic tissues.
- Confirmation of a clinical diagnosis of SCOT deficiency.
- Carrier testing in adults with a family history of SCOT deficiency.
Analytical Sensitivity: ~99%.
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.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.