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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
General
lactase deficiency
carbohydrate inborn error of metabolism
Database Correlations
OMIM 223000
References
OMIM :accession 223000