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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results show an abnormal level of citrulline, your baby will need to have another test. Abnormal levels of citrulline can indicate Pyruvate Carboxylase Deficiency.
Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, these disorders 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 these disorders.
About Pyruvate Carboxylase Deficiency
Pyruvate Carboxylase Deficiency causes lactic acid and other compounds to build up in the blood. There are three types of Pyruvate Carboxylase Deficiency- types A, B, and C. Each type varies in the severity of symptoms which may include failure to thrive, developmental delays and seizures. Early detection and proper treatment may reduce the severity of symptoms.
Frequency
Pyruvate Carboxylase Deficiency affects approximately 1 in 250,000 babies born in the United States.
Condition Type
Pyruvate Carboxylase Deficiency is a Mitochondrial Disorder.
Also Known As
Ataxia with Lactic Acidosis, Leigh’s Syndrome due to Pyruvate Carboxylase Deficiency, PC Deficiency, Type II