Find Support With:
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, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG 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 HMG Deficiency.
About HMG Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG Deficiency) causes harmful amounts of organic acids and toxins to build up in the body. This is because children with HMG Deficiency do not have the necessary enzyme for breaking down leucine. Leucine is an amino acid found in many foods.
If untreated, HMG Deficiency may cause brain damage or death.
Early detection and treatment of HMG Deficiency can reduce the severity of symptoms.
Frequency
HMG Deficiency is rare. There are estimated to be fewer than 100 individuals with HMG identified worldwide.
Condition Type
HMG Deficiency is an Organic Acid Disorder.
Also Known As
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency, 3-OH 3-CH3 Glutaric Aciduria, 3HMG, C5OH, Deficiency of Hydroxymethylglutaryl-CoA Lyase, HMG, HMG-CoA Lyase Deficiency, Hydroxymethylglutaric Aciduria