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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, Holocarboxylase Synthetase Deficiency (MCD) 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 MCD.
About MCD
Holocarboxylase Synthetase Deficiency (MCD) causes harmful amounts of organic acids to build up in the body. Children affected by MCD have trouble using biotin. Biotin is a vitamin that helps turn certain proteins and carbohydrates into energy.
If untreated, MCD can cause seizures and permanent brain damage. However, if the condition is detected early and proper treatment is begun, the severity of symptoms may be reduced.
Frequency
MCD affects approximately 1 in 87,000 babies in the United States.
Condition Type
MCD is an Organic Acid Disorder.
Also Known As
C3, C5OH, Early-Onset Multiple Carboxylase Deficiency, HCSD, HLCS Deficiency, Holocarboxylase Deficiency, Holocarboxylase Synthetase Deficiency, Multiple Carboxylase Deficiency, Multiple Co-A Carboxylase Deficiency, Neonatal form of MCD