congenital lactase deficiency; hereditary alactasia; disaccharide intolerance 2

Epidemiology

rare

Pathology

• an almost total lack of LCT activity is found in jejunal biopsy material

Genetics

• autosomal recessive
• associated with defects in LCT

Clinical manifestations

• watery diarrhea in infants fed with breast milk or other lactose-containing formulas

More general terms

• lactase deficiency
• carbohydrate inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/223000