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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, LCHAD 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. If this additional test still indicates that your baby may have LCHAD Deficiency, genetic testing will be needed.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with LCHAD Deficiency.
About LCHAD Deficiency
LCHAD deficiency is a condition in which the body is unable to break down certain fats. People affected by LCHAD are not able to change some of the fats they eat into the energy their body needs.
If untreated, LCHAD can cause heart and liver problems, developmental delays, and coma. If LCHAD is detected early and proper treatment is begun, some of these symptoms can be lessened.
Frequency
LCHAD Deficiency affects approximately 1 in 363,000 babies in the United States.
Condition Type
LCHAD Deficiency is a Fatty Acid Oxidation Disorder.
Also Known As
LCHADD, Long-Chain L-3 Hydroxyacyl-CoA Dehyrdrogenase Deficiency, Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency, Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency, Type 1 Trifunctional Protein Deficiency, C16OH, C18:1OH