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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, 2-Methylbutyryl CoA Dehydrogenase Deficiency (2MBG) 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 2MBG Deficiency.
About 2-Methylbutyryl CoA Dehydrogenase Deficiency
2-Methylbutyryl CoA Dehydrogenase Deficiency (2MBG Deficiency) causes harmful amounts of organic acids and toxins to build up in the body. This is because an essential enzyme is not produced by children with 2MBG Deficiency.
If untreated, 2MBG Deficiency may cause breathing problems, seizures, coma, or brain damage.
Early detection and treatment of 2MBG Deficiency can reduce the severity of symptoms.
Frequency
2MBG Deficiency is very rare in the United States. It most often affects people of Hmong ancestry with 1 in 250 to 1 in 500 babies affected.
Condition Type
2MBG Deficiency is an Organic Acid Disorder.
Also Known As
2-MBAD Deficiency, 2-MBCD Deficiency, 2-Methylbutyrylglycinuria, 2MBG, C5, Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency (SBCAD)