|
|
Health Professionals Guide to Newborn Screening
Maple Syrup Urine Disease (MSUD)
Autosomal recessive amino acid disorder caused by deficiencies in the branched chain keto-acid dehydrogenase enzymes causing the build up of leucine, isoleucine, and valine in the blood. Early detection and treatment is essential to prevent associated mental retardation and/or neurological complications.
| Prevalence (WI): |
1:150,000 (general population)
1:1000 (Mennonites) |
| Analyte Measured: |
Leucine, Valine
(Isoleucine and Leucine are measured as one analyte) |
| Abnormal Levels: |
| 305-399 µmol/L |
Possible Abnormal (blue report) |
| ³ 400 µmol/L |
Definite Abnormal (gold report) |
³ 250 µmol/L
leu/phe ³ 5.9 |
Definite Abnormal (gold report)
|
³ 305 µmol/L
Valine ³ 250 µmol/L |
Definite Abnormal (gold report)
| |
| Feeding Effect: |
Minimal |
| Timing Effect: |
< 24 hours of age: Repeat at two weeks
³ 24 hours of age: Results are valid |
| Confirmation: |
Immediate consult with a metabolic specialist at a metabolic treatment center. |
|
Treatment: |
The treatment for MSUD is dietary restriction of the branched chain amino acids leucine, isoleucine, and valine. Treatment should begin as soon after birth as possible and continue through childhood and adolescence. Special infant formulas for treatment of MSUD are available free of charge through the metabolic clinics. |
Information on treatment centers is also available on this site.
For information about other screened disorders, click on the next page button, or follow one of these links:
NEXT PAGE
|
