Galactose-1-Phosphate Analysis

Test Information

Galactosemia is an inborn error of carbohydrate metabolism caused by the deficiency of galactose-1-phosphate uridyl transferase (GALT), which performs the second enzymatic step in the conversion of galactose to glucose-1-phosphate. As a result of the enzyme deficiency, excess galactose is excreted in the urine and the substrate for GALT, galactose-1-phosphate, accumulates throughout the body.

Turnaround Time

1 week

CPT Code(s)

84378

Cost

$200

Disorders

Clinical Information

Manifestations of the galactosemia appear within days of the initiation of milk feedings, and include vomiting, jaundice and failure to thrive. If left untreated for a prolonged period of time, patients will develop hepatomegaly, cataracts and intellectual disability. Speech delay and premature ovarian failure are also observed in many galactosemia patients, even in those who are diagnosed early and put on treatment.

Indications

Galactosemia is typically detected very early because of newborn screening programs, which measure GALT enzyme activity in dried blood spots. The measurement of galactose-1-phosphate is performed to confirm a new diagnosis of galactosemia and to periodically monitor the effectiveness of treatment in patients known to have the disease.

Methodology

Galactose-1-phosphate (Gal-1-P) is measured by first converting endogenous galactose-1-phosphate to galactose using alkaline phosphatase, and then converting galactose to galactonolactone using ?-galactose dehydrogenase. During the second enzyme reaction, NAD is reduced to NADH, the accumulation of which can be measured using its absorbance at 340 nm. Results are reported in mg Gal-1-P / dL RBC.

Specimen Requirements

Galactose-1-phosphate measurements must be performed in washed red blood cells. Collect 5 ml blood in a sodium heparin, green top tube. The laboratory will isolate red blood cells for use in the assay if a whole blood sample is sent.

Transport Instructions

Send via courier or 24-hour delivery at room temperature (not frozen). Red blood cells must be isolated within 24 hours of sample collection.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Analyte Analysis, Analytes and Biomarkers, Biochemical Testing, Newborn Screening Follow-Up
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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