Classic Galactosemia: Indian Scenario.

Classic galactosemia is an autosomal recessive disorder of galactose metabolism due to deficiency of the enzyme galactose-1phosphate uridyltransferase (GALT). Most affected babies develop severe manifestations such as failure to thrive, vomiting, diarrhea, hypoglycemia, hypotonia, jaundice (which is often unconjugated in the beginning) and cataracts within 1-2 weeks of starting milk feeding [1,2]. Without treatment, these babies progress to severe liver disease (hepatosplenomegaly, abnormal liver function tests, coagulopathy, cirrhosis, ascites), renal tubular damage and brain damage. Often they develop life threatening bacterial sepsis, most commonly due to E. coli infections. Fatality is high in untreated cases. However, response to withdrawal of galactose (milk) is almost dramatic in most cases – acute symptoms subside within a few days and liver functions improve rapidly to full recovery [1,3]. Nevertheless, long term outcome is somewhat frustrating, as despite early diagnosis and strict dietary therapy, many, inevitably demonstrate long-term complications such as cognitive and motor dysfunction, speech and learning difficulties (>70%), osteoporosis and hypogonadism with infertility (> 90% females) [4,5].