Newborn screening for galactosemia: a 30-year single center experience.

BACKGROUND Galactosemia due to complete or near-complete galactose-1-phosphate uridyltransferase (GALT) deficiency was the first disorder added to the pioneering newborn screening panel besides phenylketonuria. In the last 50 years, many criticisms have been focused on the opportunity of its inclusion. Consequently, long-term single center experiences with this issue are generally lacking. METHODS We reviewed the outcome of newborn screening for hypergalactosemia performed at our department since 1982 and the correspondent long-term clinical outcome. RESULTS Among 1 123 909 newborns screened for hypergalactosemia, 33 showed abnormal results confirmed at second tier test. Thirteen patients were affected with classic galactosemia, 8 partial GALT deficiency, 3 severe galactokinase deficiency, 7 transient galactosemia, one congenital porto-systemic shunt, and one glucose transporter 2 deficiency. Acute neonatal liver failure in the late first week of life (5.8±1.1 days) unavoidably complicated the clinical course of classic galactosemia, unless in three second-born siblings treated on the basis of presumptive diagnosis immediately after newborn screening sample collection on day 3. Despite early treatment and long-term steadily normal peripheral blood galactose, 77% of patients with severe GALT deficiency present mild to severe intellectual disabilities. All patients with partial GALT deficiency showed normal intellectual development on a regular diet, as well as patients with galactokinase deficiency under treatment. CONCLUSIONS Availability of screening results within the fifth day after birth would allow the prevention of acute decompensation in classic galactosemia. A systematic diagnostic work-up in all positive newborns is essential to unravel the etiology of hypergalactosemia.