Lactose Intolerance, Adult Type

Description

In humans, the activities of lactase and most of the other digestive hydrolases are maximal at birth. The majority of the world's human population experiences a decline in production of the digestive enzyme lactase-phlorizin hydrolase during maturation, with the age of onset ranging from the toddler years to young adulthood. Due to the reduced lactase level, lactose present in dairy products cannot be digested in the small intestine and instead is fermented by bacteria in the distal ileum and colon. The fermentative products result in symptoms of diarrhea, gas bloat, flatulence, and abdominal pain. However, in a minority of adults, high levels of lactase activity persist in adulthood. Lactase persistence is a heritable autosomal dominant condition that results in a sustained ability to digest the milk sugar lactose throughout adulthood (Olds and Sibley, 2003).

Clinical Features

Phenotypes and symptoms related to Lactose Intolerance, Adult Type

  • Pain
  • Diarrhea
  • Abnormality of metabolism/homeostasis
  • Osteoporosis
  • Abdominal pain
  • Gastritis
  • Lactose intolerance
  • Decreased small intestinal mucosa lactase activity

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Lactose Intolerance, Adult Type Is also known as adult lactase deficiency, disaccharide intolerance iii, hypolactasia, adult type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Lactose Intolerance, Adult Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lactose Intolerance.

By GENE Núcleo de Genética Médica de Minas Gerais (Brazil).

MCM6
Specificity
100 %
Genes
100 %
MCM6. Detection of the mutations c.1917 326C>T (-13910C/T; rs4988235) and c.1362 117G>A (-22018G/A; rs182549) by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MCM6
Specificity
100 %
Genes
100 %
Lactose intolerance (targeted mutations analysis of MCM6 gene).

By CGC Genetics (Portugal).

MCM6
Specificity
100 %
Genes
100 %
Lactose intolerance, adult type (sequence analysis of MCM6 gene).

By CGC Genetics (Portugal).

MCM6
Specificity
100 %
Genes
100 %
Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8).

By CGC Genetics (Portugal).

HLA-DQA1, HLA-DQB1, MCM6
Specificity
34 %
Genes
100 %
Lactose Intolerance, Adult Type.

By Bioscientia GmbH Center for Human Genetics (Germany).

MCM6
Specificity
100 %
Genes
100 %
LACTOSE INTOLERANCE, ADULT TYPE.

By Centogene AG - the Rare Disease Company (Germany).

MCM6
Specificity
100 %
Genes
100 %
Lactose intolerance.

By Furst Medical Laboratories, FurstNAT (Norway).

MCM6
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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