lactase deficiency—congenital

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lactase deficiency—congenital2016-11-26T14:31:09+00:00

lactase deficiency—congenital 

METABOLISM

A rare autosomal recessive disorder (OMIM:223000), characterised by severe watery diarrhoea in infants fed with breast milk or other lactose-containing milk formulas. A virtually complete lack of LCT activity is found in jejunal biopsy material.

In contrast, adult-type hypolactasia, aka lactose intolerance, the most common enzyme deficiency worldwide, is due to a developmental down-regulation of lactase activity which evolves from childhood to early adulthood, and is regarded as a normal physiological phenomenon. Most northern Europeans maintain lactase activity and digest lactose throughout life, a phenomenon known as lactase persistence.

Molecular pathology Defects of LCT, which encodes lactase, a glycosyl hydrolase, cause lactase deficiency—congenital. 

Synonyms Alactasia—congenital, COLACD, disaccharide intolerance II, hereditary alactasia, lactase deficiency—congenital 

References http://www.uniprot.org/uniprot/P09848

http://www.omim.org/entry/223000

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