Galactosemia: a treatable metabolic disorder

Case Reports: A term male baby was delivered normally in hospital with Apgar score 10/10 at 5 minutes, weighting 3200 grams and no congenital anomaly was apparent. Baby was sent home same day. He was brought on 5th day with complaint of jaundice. Total Serum bilirubin was 21.0-mg% with predominant indirect hyperbilirubinemia. No evidence of ABO, Rh incompatibility, glucose-6-phosphate dehydrogenase[G6PD] deficiency or any other cause of jaundice detected at this stage. He was admitted in hospital and phototherapy was started. Baby remained active, aferbile, feeding well during hospital stay. Serum bilirubin dropped to 13.0-mg% on 10th day and was discharged in satisfactory condition. But he was readmitted after one day with complaint of poor feeding, drowsiness, hypothermia and lethargy. With clinical impression of neonatal sepsis, injection ceftriaxone and amikacin were started empirically. Mild jaundice was still present. Investigations revealed hemoglobin [Hb] 13.0 gm%, total leukocyte count[TLC] 2800/mm3, platelets 40,000/mm3, blood glucose 60mg% and serum bilirubin 8.0mg%. Condition of baby improved after 24 hours. He became active and started taking feeds. Blood culture revealed growth of E. coli, sensitive to above antibiotics. Antibiotics were continued for 12 days and baby was discharged. On follow up after 10 days at 01-month of age, baby was quite pale looking, deeply jaundiced and not gaining weight. He weighed only 3.3 kg at 35 days of age. Investigations revealed Hb: 8.0 gm%, serum bilirubin 18.0 mg%, Alanine transferase[ALT] 190iu/l, Alkaline phosphatase 1056 u/l with predominant indirect hyperbilirubinemia. Urine examination revealed no abnormality. Ultrasonography[USG] of abdomen revealed mild hepatomegaly with diffuse increased echogenecity. New clinical finding was bilateral lenticular haze [oil droplet type], confirmed by ophthalmologist. Urine for reducing substances was repeated which was strongly positive with Benedict's solution but negative with glucostix. Keeping in mind the possibility of glactosemia, breast-feeding was stopped and replaced with Soy based milk. Red cell concentrate was also transfused and further investigations were done to rule out other causes of persistent indirect hyperbilirubinemia. On induction of lactose free milk, jaundice remarkably regressed in about one week time. Lenticular opacities almost completely disappeared and LFTS became normal in about one month time. Baby is on regular follow up. He is now one year old weighing 9.5 kg and achieving developmental milestones normal for age

Screening for galactosemia: Philippines experience. Newborn Screening Study Group.

Galactosemia is an inborn error of galactose metabolism due to a deficiency of any of the galactokinase, galactose-1-phosphate uridyl transferase (GALT), or epimerase enzymes. The Philippines, with its pilot newborn screening project, has been screening for this disorder for 2 years now. A total of 62,841 babies have been screened using the galactose and galactose-1-phosphate spot test. Confirmatory testing is done by the newborn screening laboratory of the The New Children's Hospital in Westmead, Australia. Two cases of galactosemia: 1 classical galactosemia and 1 galactokinase deficiency have so far been confirmed. Clinical review, problems encountered, and management are described. Long-term outcome of these patients, however, is yet to be determined.