Introduction:

Galactosemia is an inborn error of galactose metabolism, caused by the deficiency of some of the enzymes GALT, GALK1, GALE and GALM. In this study, six cases with galactosemia and their clinical, biochemical and molecular characterization are presented.

Material and methods:

The clinical data of six patients with galactosemia are presented, as well as the nutritional treatment and follow-up are described. The diagnosis was made with an expanded neonatal screen. In patients with a total galactose measurement > 10 mg / dL, the Beutler test was performed. Molecular analysis for the GALT, GALE and GALK genes was performed by Sanger sequencing.

Results:

Three patients presented clinical data at the time of diagnosis, two with acute neonatal symptoms, the third with chronic symptomatology, reaching diagnosis at school age. The other three were asymptomatic. All six patients were offered nutritional treatment based on the elimination of galactose. In four patients, biallelic pathogenic variants were identified in GALK1 and one in GALT. In the sixth patient, a homozygous intronic deletion was detected in GALK1, classified as SNP.

Conclusions:

Galactosemia has a variable clinical spectrum, therefore, its diagnosis requires both its detection by metabolic screening and the identification of a compatible clinical picture. As part of the approach, the genetic aspect is essential in order to offer individualized genetic counseling.