According to the results of lactose-tolerance tests and intestinal lactase assays, one-third of . Vasconcellos D, Goncalves A: Deficiencia de lactase en adultos. A number sign (#) is used with this entry because congenital lactase deficiency is caused by homozygous or compound heterozygous mutation in the LCT gene. Por lo general, se debe a la deficiencia de lactasa, una enzima que se produce en el intestino delgado. Muchas personas tienen niveles bajos.

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Yes, English can be a very concise language and English speakers deficienciia be shortcutters and acronymaniacs sometimes… but it just takes a minute to look it up in the dictionary and find out that the Lapps are actually the people of Lapland.

Please consider making a donation now and again in the future. Unfortunately, it is not free to produce. Argos Traducciones y Servicios Profesionales, S. TEXT A number sign is used with this entry because congenital lactase deficiency is caused by homozygous or compound heterozygous mutation in the LCT gene on chromosome 2q Register with an access code If you have been provided an access code, you can register it here: A subscription is required to access all the content in Best Practice.

Assignment of the locus for congenital lactase deficiency to 2q21, in the deficiwncia of but separate from the lactase-phlorizin hydrolase gene. It should be translated by whatever expression that makes it clear that the disease is typically observed among Lapp people!

However, the disease has distinct features. The disorder occurs with breastfeeding as well as bottle-feeding.

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Choose one of the access methods below or take a look at our subscribe or free trial deficienciia. Several groups described what may be a distinct disorder. Everything was fine… until this standard statement was translated into other languages! Please enter a valid username and password and try again.

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Affected persons might have less atherosclerosis than the average because they avoid dairy products, just as persons with fructose intolerance have fewer dental caries. Liver damage is also observed. What shows this article is that there is no harm in questioning well-established standards! Lapp lactase deficiency What is the Lapp lactase deficiency?

Lactose, not normally found in the blood, may have toxic effects as does fructosephosphate in fructose intolerance and galactosephosphate in galactosemia The data demonstrated that, in contrast to adult-type hypolactasia lactose intolerance caused by a variant of the regulatory element, the severe infancy type represents the outcome of mutations affecting the structure of the protein with inactivation of the enzyme.

If your hospital, university, trust or other institution provides access to Best Practice, log in via the appropriate link below: Il Pensiero Scientifico pub. Severe familial lactose intolerance–a gastrogen disorder?

Although the disorder can be fatal if not recognized, change to a milk-free diet leads to rapid recovery, and after 6 months of age a normal diet with milk is well tolerated Hoskova et al. The 16 cases included 4 pairs of sibs.

Intolerancia a la lactosa – Síntomas y causas – Mayo Clinic

They raised the question of a defect in a control mechanism ‘in trans’ lacase the basis of the abnormality. Severe congenital lactose lactaase was viewed by some as a transient form of congenital lactase deficiency. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. The entered sign-in details are incorrect.


lactawe However, no association was found between these variants and congenital lactase deficiency in 19 Finnish dfeiciencia. On the package leaflet of virtually every drug product containing lactose, the following warning can be read: Then how do we believe should it be translated? Severe lactose intolerance with lactosuria and vomiting. Endocrine and Genetic Diseases of Childhood.

Sucrose, maltose, and starch are well tolerated. Dahlqvist ; Darling et al. We are determined to keep this website freely accessible. What does Lapp mean?

Affected sibs were reported by Holzel et al. 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. It is a more serious disorder with vomiting, failure to thrive, dehydration, disacchariduria including lactosuria, renal tubular acidosis, and amino aciduria. Take a look at our subscription options.

By linkage analysis in 19 Finnish families, Jarvela et al. Sign up for a FREE trial. Specificity of the human intestinal disaccharidases and implications for hereditary disaccharide intolerance. Clinical Synopsis Toggle Dropdown. The Finnish collection of 16 patients was deficeincia impressive in light of the fact that only 18 cases had been reported elsewhere.

Expert curators review the literature and organize it to facilitate your work. The moral of this story is… Until internet opened new horizons, what was written ceficiencia books, in the law or in publications by recognised institutions was often considered spotless.

The Lapp lactase deficiency is a rare hereditary condition… but not rare at all in the pharmaceutical industry!