Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai, India

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056, India.

Clinical Problem :
A 3½ months old boy born of non-consanguineous marriage presented with abdominal distension for 8 days, jaundice and ecchymoses over trunk for 1 day. There was no clay coloured stools or fever. He was a full term delivered child with birth weight of 3 kg and no antenatal or post natal complications. He was immunized till date and was on breast feeds. He had achieved social smile and partial head holding. On examination, height was 67 cms, weight was 5.6 kg, vital parameters were normal. He had jaundice, hepatosplenomegaly, ascitis and ecchymotic patch over trunk. Other systems were normal. There were no cataracts. Investigations showed hemoglobin of 10.7 gm, dl, WBC of 7100, cumm, platelets of 1,64,000, cumm, bilirubin of 12.3 mg, dl {direct bilirubin of 5.3 mg, dl}, SGOT of 121 IU, L, SGPT of 36 IU, L, alkaline phosphatase of 1785 IU, L,GGTP of 186 IU, L, total proteins of 5.8 gm, dl, albumin of 3.0 gm, dl, prothrombin time and partial thromboplastin time of more than 2 mins. Venous blood gas showed pH of 7.468 and bicarbonate of 9.4 mmol, L. Urine reducing substance was positive and urine organic acids showed increased glycine, serine, threonine, galactose, galactitol, galactonate. HIDA showed excretion of tracer in the intestines and ultrasound abdomen was normal. Galactose-1 – phosphate uridyl transferase levels were 2.8 units, gm Hb {Normal range = 10-45 units, gm Hb}, which were again repeated and found to be 2.9 units, gm Hb. Patient was treated with galactose free diet and breast feeds were stopped. In view of ascitic fluid showing 500 cells, cumm {2 percent polymorphs, 98 percent lymphocytes} and proteins of 2.5 gm, dl, patient was treated with IV antibiotics for 10 days. On follow up at 6 months of age, patient weighted 7 kg, had normal milestones, bilirubin was 0.5 mg, dl, SGOT was 50 IU, L, SGPT was 35 IU, L. However the child had developed portal hypertension.

Question :
What is the long term outcome in patients with galactosemia_?

Expert Opinion :
Galactosemia is the most common carbohydrate metabolism disorder which is inherited in an autosomal recessive manner and can cause life-threatening illness during the newborn period. There is inability to metabolize the sugar galactose properly. Infants affected by galactosemia typically present with lethargy, vomiting, diarrhea, failure to thrive, hepatomegaly with hepatic dysfunction and jaundice. There may be bleeding from coagulopathy. Cataracts may sometimes be seen as early as the first few days of life. These patients are prone to E.coli sepsis. Ascites may also be seen in early infancy. The only treatment for classic galactosemia is eliminating lactose and galactose from the diet. This is usually accomplished by switching the baby from drinking breast milk or a milk-based formula to drinking a low galactose formula, such as soy or elemental formula. Cataracts usually self-resolve following dietary galactose restriction. Rarely surgery may be required to remove the cataracts. Even with an early diagnosis and a restricted diet, however, some individuals with galactosemia experience long-term complications such as speech difficulties, learning disabilities, neurological impairment {e.g. tremors, etc.}, and ovarian failure. {1}

1. Galactosemia Foundation – Understanding galactosemia. Available at website:, Understanding_Galactosemia.phpNo.Cataracts. Accessed on 3rd May 2015

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