Classic galactosemia is an inherited disorder of galactose metabolism that is caused by a deficiency of galactose-1-phosphate uridyl transferase (GALT). As in other Asians, the prevalence of galactosemia in Thai people is very low. An accumulation of its toxic metabolites leads to acute neonatal toxicity and long-term complications.
To present the fourth known published case of classical galactosemia in a Thai infant and review the English language literature.
A 4-month-old boy who was born into a Thai family with no history of consanguinity developed persistent jaundice, hepatosplenomegaly, and lethargy, since introduction to breast-feeding.
Urine gas chromatography-mass spectrometry demonstrated a high level of galactose, galactitol, and galactonate. Liver biopsy confirmed severe hepatocellular damage and fibrosis. Breast-feeding was immediately replaced by a lactose-free diet and soy milk. His clinical features and subsequent laboratory measurements improved. Developmental delays and defects on speech presented at the last followed up.
Long-term complications are diet-independent and inevitable. However early recognition and immediate withdraw of galactose from the diet can prevent serious morbidity and mortality.