Internal Medicine

0521779407-08 CUNY1086/Karliner 0 521 77940 7 June 13, 2007 7:47

598 Galactosemia

■immediate exclusion of galactose from diet (use casein hydrolysate

or soy formulas) while awaiting results of confirmatory testing

■confirm diagnosis

General Measures

■intravenous fluids, plasma, vitamin K may be needed in sick neonate

■referral to biochemical genetics specialist center

■life-long exclusion of galactose from diet (NB: many medicines con-

tain galactose – avoid if possible)

■adequate calcium intake to aid in osteoporosis prevention

specific therapy

■above treatment for all confirmed classic galactosemia patients

■galactose restrict D/G heterozygotes for 4–12 months, then start reg-

ular diet if galactose-1-phosphate levels normal after galactose chal-

lenge (controversial – some centers do not galactose restrict)

■hormone replacement therapy in premature ovarian failure (from

∼age 12 years) – monitor growth, bone age, BP during initiation of

therapy

Side Effects & Contraindications

■galactose restricted diet is well-tolerated

follow-up

During Treatment

■monitor liver function, renal function and response to antibiotics (if

septic)

Routine

■biochemical geneticist/nutritionist evaluation, diet education for

family of affected child, genetic counseling

■regular galactose-1-phosphate levels

■annual ophthalmology evaluation for cataracts

■regular developmental assessment (esp. to screen for speech impair-

ment)

■refer girls to pediatric endocrinologist at∼age 10 years

complications and prognosis

Complications

■cirrhosis, renal dysfunction, cataracts if untreated or noncompliant

with diet