Galactosemia

Classical galactosemia is the most common disorder of galactose metabolism. Symptoms appear in the neonatal period after ingestion of galactose and include vomiting, diarrhea, failure to thrive, lethargy, hypotonia, jaundice, hepatomegaly, septicemia, cataracts and bleeding tendencies. If a galactose-restricted diet is initiated rapidly, the neonatal symptoms resolve and the complications of liver failure, sepsis, neonatal death and mental retardation can be prevented. Despite adequate galactose restriction from an early age children with galactosemia are at risk for ataxia, verbal apraxia, delayed speech and developmental delay. Females with galactosemia are at risk for premature ovarian failure.

Tests Available

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

GALT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

349E
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1, 81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 271.1 Galactosemia, Galactose-1-phosphate uridyl transferase deficiency, Galactosuria
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References

  1. Elsas, L and Lai, K (1998) Genet Med 1 :40-8
  2. Elsas, L. (Updated [September 27, 2007]). Galactosemia
  3. Kozak et al., (1999) Hum Mutat 15 :206
  4. Barbouth et al., (2006) Genet Med 8:176-182
  5. Bosch et al., (2005) Hum Mutat 25 :502