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

Diagnóstico bioquímico de 2 niños con galactosemia / Biochemical diagnosis of two children with galactosemia

Se presenta un estudio bioquímico realizado en el Centro Nacional de Genénica Médica a 2 niños remitidos por sospecha clínica de padecer galactosemia. Se realizó la cromatrografía en capa fina para la detección de carbohidratos en orina, y se halló una banda al nivel de galactosa. Posteriormente se procedió a la cuantificación del metabolito en orina y suero, y se detectó éste elevado de ambos fluidos. El diagnóstico bioquímico final consistió en comprobar la deficiencia de la enzima galactosa-1-fosfato uridil transferasa eritrocitaria por el método espectrofotométrico; se comprobó también el carácter de portadores del gen deficiente en los padres de ambos niños