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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, 3MCC Deficiency 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 3MCC Deficiency.
About 3MCC Deficiency
Children affected by 3MCC Deficiency are not able to break down an amino acid called leucine. This can cause harmful amounts of organic acids to build up in the body.
Many individuals with 3MCC Deficiency are not affected by the disorder, do not experience symptoms, and may only require long-term monitoring for symptoms.
In other individuals, if untreated, 3MCC Deficiency can cause breathing problems, seizures, liver problems, and coma. However, if the condition is detected early and proper treatment is begun, children with 3MCC Deficiency often lead healthy lives.
Occasionally, a mother may discover that she has 3MCC Deficiency because of her baby’s newborn screening results. This is because the affected mother is providing blood to her infant during pregnancy. The baby may not have the disease, but his or her blood will appear as though he or she is affected for a short time after birth.
Frequency
3MCC Deficiency affects approximately 1 in 50,000 babies in the United States.
Condition Type
3MCC Deficiency is an Organic Acid Disorder.
Also Known As
3-MCC, 3-Methylcrotonylglycinuria, BMCC Deficiency, C5OH, Methylcrotonyl-CoA Carboxylase Deficiency