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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, Isobutyrylglycinuria (IBG) 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 IBG.
About IBG
Isobutyrylglycinuria (IBG) causes harmful amounts of organic acids and toxins to build up in the body. Children affected by IBG are not able to break down certain proteins.
Symptoms of untreated IBG vary. Some children with IBG may show no symptoms. Others may experience delayed growth, trouble breathing, anemia (low blood iron), or an enlarged, weak heart. However, if the condition is detected early and proper treatment is begun, the severity of symptoms may be reduced.
Frequency
IBG is extremely rare. Fewer than 30 cases have been reported.
Condition Type
IBG is an Organic Acid Disorder.
Also Known As
ACAD8 Deficiency, C4, IBD Deficiency, Isobutyryl-CoA Dehydrogenase Deficiency, Isobutyryl-coenzyme A Dehydrogenase Deficiency, Isobutyrylglycinuria