congenital lactase deficiency

A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.

Signs and symptoms

• Diarrhea
• Decreased small intestinal mucosa lactase level
• Dehydration
• Metabolic acidosis
• Lactose intolerance

Also known as: CLD; congenital alactasia; congenital alactasia syndrome; congenital lactose intolerance; congenital lactose malabsorption