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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, 2M3HBA 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 2M3HBA Deficiency.
About 2M3HBA Deficiency
2M3HBA Deficiency causes harmful amounts of organic acids and toxins to build up in the body. This is because an enzyme responsible for breaking down certain proteins is not produced by children with 2M3HBA Deficiency.
2M3HBA is an X-linked disorder. This means that males are the most affected. Females may have symptoms that are milder.
If untreated, 2M3HBA Deficiency may cause permanent brain damage. However, if the condition is detected early and proper treatment is begun, the severity of symptoms can be reduced.
Frequency
2M3HBA Deficiency is very rare and the frequency is not known. At least 11 people have been diagnosed.
Condition Type
2M3HBA Deficiency is an Organic Acid Disorder.
Also Known As
2-Methyl-3-Hydroxybutyric Acidemia, 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency, 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase (3H2MBD) Deficiency, C5:1, C5OH, HSD10 Deficiency, Hydroxyl-CoA Dehydrogenase Deficiency, MHBD Deficiency