Diagnosis and management of galactosemia: an Egyptian experience.

Objective: To screen normal and high risk Egyptian neonates for galactosemia.

Subjects And Methods: The study included 2238 neonates classified into two groups. Group I included screening of 1794 normal newborns. Group II included 374 high risk neonates (jaundice, hepatomegaly and failure to thrive). Group III 70 prematures. Total galactose was determined by enzymatic colourimetric method in dried blood spot (Quantase). The enzymes activities (uridyltransferase and epimerase) were measured using C14.

Results: One case of galactosemia was found in the first group and 26 cases in the second group. 19 patients suffered from uridyltransferase deficiency, the parents of 16 (88.8%) of this classic form were consanguineous and 5 (27.7%) parents had history of a previously affected child. Mean age of diagnosis was 3.8 month with a mean total gal value of 52.9 mg/dl. 10 (55.5%) of them have cataract. The other 8 affected neonates were epimerase deficiency patients. 5 (62.5%) of them born to consanguineous parents. Parents of the epimerase deficiency neonates have no previously affected children. Mean age of diagnosis was 7.2 month with a mean total gal of 17.5 mg/dl. All eight patients have cataract.

Conclusion: Mass screening program is not available yet in Egypt. Screening of the high risk neonates is a priority. Diagnosis of different galactosemia forms is mandatory to structure the management strategy accordingly. (Fig. 4, Ref: 26.)