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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, Beta-Ketothiolase Deficiency (BKT) can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with BKT.
About BKT
Beta-Ketothialase Deficiency (BKT) causes harmful amounts of organic acids and toxins to build up in the body. Children affected by BKT are not able to break down certain proteins and are not able to make ketone bodies. Ketone bodies help the body store energy.
If untreated, BKT can cause intellectual disability and seizures.
Early detection and treatment of BKT can reduce the severity of symptoms.
Frequency
BKT affects less than 1 in 1,000,000 babies in the United States.
Condition Type
BKT is an Organic Acid Disorder.
Also Known As
3-Ketothiolase Deficiency, 3-Methylhydroxybutyric Acidemia, 3-Oxothiolase Deficiency, Alpha Methylacetoacetic Aciduria, Alpha-methyl-acetoacetyl-CoA Thiolase Deficiency, Beta-Ketothiolase Deficiency, BKD, C5:1, C5OH, Ketone Utilization Disorder, MAT Deficiency, Mitochondrial Acetoacetyl-CoA Thiolase Deficiency, T2 Deficiency