Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and evaluate their psychomotor and speech development. Patients with GALT deficiency (n = 17) were picked up through neonatal screening. Mutational analysis was conducted via Sanger sequencing, while in silico analysis was used in the cases of novel missense mutations. Psychomotor speech development tests were utilized for the clinical evaluation of the patients. Eleven different mutations in the GALT gene were detected in the patient cohort, including two novel ones. The most frequent mutation was p.Q188R (c.563 A > G). As for the novel mutations, p.M298I (c.894 G > A) was identified in four out of 32 independent alleles, while p.P115S (c.343 C > T) was identified once. Psychomotor evaluation revealed that most of the patients were found in the borderline area (Peabody test), while only two had speech delay problems. The WISK test revealed three patients at borderline limits and two were at lower than normal limits. The mutational spectrum of the GALT gene in Greek patients is presented for the first time. The mutation p.Q188R is the most frequent among Greek patients. Two novel mutations were identified and their potential pathogenicity was estimated. Regarding the phenotypic characteristics, psychomotor disturbances and speech delay were mainly observed among GALT-deficient patients.

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Abstract Parents had already taken information about galactosemia from web medical pages because they were asked for a second blood sample from their infant suspected for the disease. All enzyme types of this disorder are diagnosed by neonatal screening perinatally and treated with a galactose (GAL) free diet. The most frequent information about the disease was mental retardation (100%), eye cataracts (100%) liver dysfunction (90.5%), speech delay (76.1%), hypoglycemia (69.0%), seizures (31.0), etc. Most clinical and laboratory information about galactosemia taken from the Internet was correct for the classical type of the disorder. A differentiation of the galactosemia enzyme types is needed.

Breastfeeding replacement is the only treatment for galactosemia (GAL) and phenylketonuria (PKU) during infancy. We aimed to evaluate the stress degree in mothers who were obliged to replace breastfeeding with special formulas as the only treatment for the diseased newborns. Thirty-two mothers with GAL newborns, 19 on breastfeeding only and 13 on breastfeeding plus formula, participated in this study. Additionally, 54 mothers with PKU infants, 32 offered breastfeeding only and 22 breastfeeding plus formula, participated in the study. Stress degree was evaluated in both groups: GAL and PKU. Mothers on breastfeeding only experienced the highest degree of stress than those who were on breastfeeding plus formula. After 1 month of psychological support, most mothers were ameliorated: mothers on breastfeeding only felt better as compared to those on breastfeeding plus formula. Conversely, in mothers on breastfeeding plus formulas, symptoms and signs of stress almost disappeared. In conclusion, GAL or PKU mothers with breastfeeding only experienced the highest degree of stress when asked for breastfeeding replacement. Psychological support made all the studied groups to feel better or free of symptoms and signs of stress.