Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lactase deficiency

Congenital lactose intolerance is an autosomal recessive disorder caused by mutations of the LCT gene. It is characterized by intermittend colicky abdominal pain, diarhea and failure to thrive which is exceptionally prominent in babies that depend on milk.

Differentials

Secondary forms of lactose intolerance may occur as a result of (gastronintestinal) infections.

Management

The disorder is efficiently managed by avoiding food that contains lactose. These are predominantly milk products, but lactose may be hidden in various food products and even in some tablets.

Symptoms

Diarrhea
In patients with congenital lactose intolerance, diarrhea manifests with breast feeding.

Systematic

Food intolerance
Adult type lactose intolerance
Eosinophil peroxidase deficiency
Fructose intolerance
Fructose malabsorption
Fructose-1,6-bisphosphatase deficiency
Fructosuria
Glucose-Galactose Malabsorption
Histamine Intolerance
Lactase deficiency
LCT
Lysinuric protein intolerance
Mast cell activation syndrome
Sitosterolemia
Trehalase deficiency

References:

1.

Enattah NS et al. (2002) Identification of a variant associated with adult-type hypolactasia.

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2.

Kuokkanen M et al. (2006) Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

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3.

Järvelä I et al. (1998) Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.

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4.

None (1958) [Idiopathic lactosuria in a patient of chronic diarrhea and acidosis].

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5.

HOLZEL A et al. (1959) Defective lactose absorption causing malnutrition in infancy.

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6.

DARLING S et al. (1960) Lactosuria and amino-aciduria in infancy. A new inborn error of metabolism?

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7.

None (1962) Specificity of the human intestinal disaccharidases and implications for hereditary disaccharide intolerance.

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8.

Russo G et al. (1974) Congenital lactose intolerance of gastrogen origin associated with cataracts.

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9.

Berg NO et al. (1969) Severe familial lactose intolerance--a gastrogen disorder?

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10.

Levin B et al. (1970) Congenital lactose malabsorption.

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11.

Rinaldi E et al. (1984) High frequency of lactose absorbers among adults with idiopathic senile and presenile cataract in a population with a high prevalence of primary adult lactose malabsorption.

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12.

Savilahti E et al. (1983) Congenital lactase deficiency. A clinical study on 16 patients.

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13.

Hosková A et al. (1980) Severe lactose intolerance with lactosuria and vomiting.

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14.

Hirashima Y et al. (1979) Lactose intolerance associated with cataracts.

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15.

OMIM.ORG article

Omim 223000 [^]
16.

Orphanet article

Orphanet ID 53690 [^]
17.

Wikipedia article

Wikipedia EN (Lactose_intolerance) [^]
Update: May 9, 2019