Lactase congenital

Congenital lactase deficiency is extremely rare. This condition is due to a genetic defect in which lactase enzyme is absent from birth. 

The SNPs identified and a role for differential activity of an enhancer in lactase persis-tence/nonpersistence do not, however, explain how those individuals with the genotype leading to adult lactase nonpersistence were able to produce sufficient lactase in infancy. There are developmental questions that remain to be answered. Congenital lactase deficiency has been localized to a separate region, also on chromosome 2q21 but not within the LCT gene (Jarvela et al., 1998). 

Jarvela I, Enattah NS, Kokkonen J, et al. Assignment of the locus for congenital lactase deficiency to 2q21,in the vicinity but separate from the lactase-phlorizin hydrolase gene. Am J Hum Genet 63 1078-1085,1998. 

Phenylketonuria Alcaptonuria Hyperammonemia I Hyperammonemia II McArdle s syndrome Hypophosphatasia Congenital lactase deficiency Hereditary fructose intolerance Gout... 

Lactose is sometimes detected in the urine of women during lactation and occasionally toward the end of pregnancy. Patients with lactase deficiency, a common disorder caused by a congenital or acquired deficiency of intestinal lactase, exhibit abdominal pain, diarrhea, and lactose in the urine. 

Lactase is iocated in the brush border (microviiii) of small intestinal enterocytes. Lactase deficiency can be primary, secondary or rarely, congenital. Dietary lactose accumulates causing flatulence and diarrhoea. 

Ill) Congenital very rare, lactase Is completely absent... 

A specific lactase deficiency which may be congenital or acquired. 

An intestinal disaccharidase which cleaves lactose to yield glucose and galactose. Lactase deficiency can occur which may be congenital or acquired. 

Congenital lactose intolerance (often regarded as an inborn error of metabolism), a relatively rare condition, caused by an absence of lactase from birth. 

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