Galactosemia

Rare autosomal recessive metabolic disorder that can present increased anesthesia risks.

Inherited disease of carbohydrate metabolism affecting how the body processes the simple sugar galactose. The primary risk factor is having parents who carry the gene for galactosemia.

Life-threatening complications in the newborn may occur shortly after introducing galactose into the diet.

Three types of galactosemia:

• Type I (classic galactosemia) involves a deficiency of GALT enzyme. This is the most common form of the disease, with overall incidence between 1:40,000 and 1:60,000 in USA.

• Type II occurs in fewer than 1:100,000.

• Type III is very rare.

Commonly causes renal, liver, neural, and ophthalmic imbalances.

Abnormal liver function tests will document extent of liver damage.

Due to liver damage, these pts may experience abnormal bleeding both intraop and postop. If undergoing a cardiac procedure requiring bypass, heparinization will compound the risk of bleeding.

These pts are prone to Escherichia coli neonatal sepsis, so extra precautions should be used if placing intravascular catheters.

Drugs that are metabolized by the liver or found to be hepatotoxic should be avoided in these pts.

Intravascular volume may be depleted in these pts due to poor feeding, vomiting, and/or diarrhea, which commonly exists in these pts.

Neurodevelopment problems are common and sometimes severe. Ataxia and intention tremor may occur in older children and adults.

Renal tubular acidosis, galactosuria, and albuminuria are common with these patients.

Hemolytic anemia due to an increase in red blood cell galactose-1-phosphate is not unusual.

Long term complications:

• Stunted growth

• Learning disabilities

• Speech/language problems

• Fine and gross motor skill delays

• Ovarian failure

• Decreased bone mineral density (lack of dairy products in diet)