A Study of 2 Cases

Case 1
On July 31, 1961, the Department of Pediatrics, S.D, Medical College, Agra, published a case file depicting the medical history of 12 weeks old boy diagnosed with Galactosemia. He was admitted to Sarojini Naidu Hospital with complainants by his mother that he was experiencing frequent vomitting, failure to thrive (as also seen in the next case), lethargy. distention of the abdomen and jaundice which had appeared on the third day after a seemingly normal birth.

The doctors ran a physical examination on the emaciated infant and found his blood count and systemic function to be normal. It was only after they conducted an osazone test which resulted positive for galactose did the doctors then use paper chromatography to confirm that galactose was indeed present in the infant.

Although the doctors did manage to diagnose the infant with galactosemia and put him on Holzel's diet, a galactose-free diet, the infant's health still continued to deteriorate and he died at 3 months old of age.

Case 2 
On 22nd May 1961, an adopted boy of 9-months of age was admitted to the same hospital due cough, fever, diarrhea, occasional vomitting and failure to thrive. He was diagnosed with jaundice when he was 10 days old.

Similar to the previous case, osazone test and paper chromatography had revealed the presence of galactose in the child's body. He was put on Holzel's diet and stayed in the hospital for 22 days. Throughout his stay, the child improved in health. He was discharged in good health, prescribed a specific diet  and scheduled to return for regular check-ups.

Notes about these cases
In both cases, galactosemia was not detected in both children until they were brought to the hospital due to their symptoms. However, in one of the two cases, the boy did not survive. As both parents did not know that their child had the disease initially, they had fed their child breast-milk or cow's milk.
Apparently, there was no history of the disease in both families of the two cases.

At present time, babies are screened for galactosemia at birth as part of routine newborn screening. Hence, it is rare that the disease would go unnoticed.