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Paediatric Laboratory Medicine

Galactosemia Quantitation - Temporarily Unavailable

Clinical Significance

Galactosemia is a disorder of galactose metabolism which, if untreated, results in cirrhosis of the liver, blindness and mental retardation. If detected early, the institution of a galactose free diet prevents these abnormalities from developing. One form of Galactosemia is due to the hereditary absence of the enzyme, galactose-1-phosphate uridyl transferase. This enzyme is normally present in the formed elements of the peripheral blood. The disorder can be diagnosed by demonstrating absence of transferase from the blood. Galactosemia is characterized by vomiting, jaundice and disturbance of liver functions, increasing bilateral cataracts, leading to sepsis and death. Symptoms often but not always start in conjunction with the initiation of milk (lactose-containing) feeds. There are three known enzyme deficiencies that give rise to Galactosemia, galactose-1-phosphate uridyl transferase (GAL 1-PUT) is the most common form of Galactosemia (incidence 1:18,000-1:180,000). GAL 1-PUT catalyzes the transformation of Galactose-1-phosphate to glucose-1-phosphate in the liver.

Test Name

Galactosemia Quantitation - Temporarily Unavailable

Test Code

YGALQ

Division

Metabolic Diseases

Turn Around Time

Done weekly

Specimen Type

Heparinized whole blood

Minimum Specimen Requirements

3 mL

Storage/Transportation

Send cold, NOT frozen

Special Requirements

Patient must have not been transfusioned in previous 3 months

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Reference Range

Normal: 229-377 units/Kg Hb

Heterozygous: 114-188 units/Kg Hb

Homozygous: 0-40 units/Kg Hb