Galactosaemia is a rare autosomal recessive condition caused by the absence of galactose-1-phosphate uridyl transferase. This results in intracellular accumulation of galactose-1-phosphate

Features

• jaundice
• failure to thrive
• hepatomegaly
• cataracts
• hypoglycaemia after exposure to galactose
• Fanconi syndrome

Diagnosis

• urine reducing substances

Management is with a galactose free diet

Lactose (galactosyl beta-1,4-glucose or milk sugar) is a disaccharide present in milk.

synthesized in the mammary gland by formation of a 1,4 glycosidic linkage between glucose and galactose.

Lactose is broken down into galactose and glucose by an intestinal brush-border disaccharidase called lactase (a type of beta-galactosidase more specifically known as lactase-phlorizin hydrolase)

Lactose intolerance

Primary - very common

particularly in people of African and Asian descent.