Galactosemia

Classical galactosemia, with otosomal recessive penetrance, occurs as a result of deficiency of galactos -1- P uridyl transferase and is the most common disorders of galactose metabolism. Clinical findings seen in newborn period are; poor sucking jaundice, failure to thrive, bleeding diathesis. If untreated, it results in life threatening complications in infants like feeding problems, failure to thrive, bleedind, hepatocellular
damage. Exact diagnosis is made by demonstrating the deficienct of galactose-1- P uridyl transferase activity.

Four cases followed up in SSK Göztepe Educational Hospital Pediatrics Department Gastroenterology and Metabolism Clinic between the years 2000-2002 are analyzed retrospectively. Three of them were males, one female and their ages ranged between 23 days and 2 months. There was 2 nd degree consanguinity in 3 of our cases. Their common complaint was jaundice and poor sucking. There was hepatomegaly in 4, splenomegaly in 2 and ascites in 2 of the cases. One of them had cataract an done had corneal opacity. In all of the cases, non glucose reluctant substance in urine was SGOT 49-270 IU/L between SGPT 3-120 IU/l. Liver biopsy was made in all of the case in three of them the diagnosis was made by demonstrating the deficiency of galactose-1- P uridyl transferase activitiy in blood. The lost case was diagnosed by clinical findings, reducing substance positively in were, liver biopsy findings and improvement in symptoms by lactose free diet.

We presented these cases to emphasize the importance of early diagnosis (intense of prognosis) in galactosemia cases in our country where consanguineous marriage is very common.

Galaktozemi