Abstract

Objective: In this study, we aimed to help clinicians in the recognition and follow-up of galactosemia by emphasizing that this disease may manifest with different clinical pictures in the neonatal period
Materials and Methods: This retrospective uncontrolled study included 19 patients diagnosed with galactosemia and followed-up between January 1994 and January 2014. Five of them had been previously diagnosed. Reductant agents in urine were evaluated using Benedict test, while galactose-1-phosphate uridyltransferase (GALT) was measured with kinetic, enzymatic, colorimetric measurement method. GALT mutation analysis was performed with the Tetra-primer Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) method. Galactose and free galactose were studied with the modified Diepenbrock colorimetric microassay method.
Results: Eight (42.1%) of the patients were female and 11 (57.9%) male. Time of the suspicion for galactosemia was found as 11.5±6.3 days, while one patient (5.3%) had a familial history of galactosemia. The most common findings were nutritional intolerance (n=17, 89.5%), hypotonia (n=17, 89.5%) and organomegaly (n=15, 78.9%). The most commonly seen genetic disorder was GALT enzyme deficiency (n=12, 85.7%) and the most common mutation was the Q188R mutation (n=8, 66.6%).
Conclusion: Galactosemia is a life threatening, but treatable disease with early diagnosis as well as being one of the metabolic diseases which cause confusion when clinically nonspecific findings are observed. Besides these clinical and laboratory findings, early diagnosis can be established by keeping in mind that galactosemia may present in infants having these findings.

Key words: Galactosemia; Neonate; Clinical And Laboratory Findings.