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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A sister of the proband was probably identically affected. Identification of a variant associated with adult-type hypolactasia. Lactose, not normally found in the blood, may have toxic effects as does fructosephosphate in fructose intolerance and galactosephosphate in galactosemia Liver damage is also observed.

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Argos Traducciones y Servicios Profesionales, S. Several groups described what may be a distinct disorder. Register with an access code If you have been provided an access code, you can register it here: Take a look at our subscription options.

They raised the question of a defect in a control mechanism ‘in trans’ lachase the basis of the abnormality.

I have some feedback on: In this disorder an almost total lack of lactase-phlorizin hydrolase activity is found in jejunal biopsy material. We will respond to all feedback. Unfortunately, it is not free to produce. In patients with congenital lactase deficiency, Kuokkanen et al.

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Why can all these translations be considered inaccurate? The Finnish collection of 16 patients was especially impressive in light of the fact that only 18 cases had been reported elsewhere. In disaccharide intolerance II, cellobiose intolerance would be expected as well as that for lactose. What shows this article is that there is no harm in questioning well-established standards! The 16 cases included 4 pairs of sibs. Everything was fine… until this standard statement was translated into other languages!


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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.

By linkage analysis in 19 Finnish families, Jarvela et al.

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 Then why is Lapp lactase deficiency so common in the pharmaceutical industry?

The data demonstrated that, in contrast to lacase 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. Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. The entered sign-in details are incorrect.

Affected sibs were reported by Holzel et al. Please consider making a donation now deficidncia again in the future. Severe lactose intolerance deficlencia lactosuria and vomiting. Defective lactose absorption causing malnutrition in infancy.

CC ]. If your hospital, university, trust or other institution provides access to Best Practice, log in via the appropriate link below: We need long-term secure funding to provide you the information that you need at your fingertips. Segregation analysis, assuming eeficiencia ascertainment, showed agreement with the number expected.

What does Lapp mean? A subscription is required to access all the content in Best Practice. I pazienti con rari problemi ereditari di intolleranza al galattosio, carenza di Lapp lattasi o malassorbimento di glucosio-galattosio non devono assumere questo medicinale.

Congenital lactose intolerance was first described by Durand Endocrine and Genetic Diseases of Childhood. In a breastfed infant who developed watery diarrhea on the third day of life, Levin et al. The late consequences of this genetic disorder were not fully known. Congenital lactose intolerance of gastrogen origin associated with cataracts. However, no association was found between these variants and congenital lactase deficiency in 19 Finnish families.


A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Yes, English can be a very concise language and English speakers can be shortcutters and acronymaniacs sometimes… but defiiciencia just takes a minute to look it up in the dictionary and find out that the Lapps are actually the people of Lapland. On the package leaflet of virtually dde drug product containing lactose, the following warning can be read: Lapp in their lab.

Poggi and Sebastio sequenced the exons, the exon-intron boundaries, and the promoter region of the lactase gene of a Finnish patient with llactase lactase deficiency. Molecular analysis of the lactase gene in the congenital lactase deficiency. Then how do we believe should it be translated? Severe familial lactose intolerance–a gastrogen disorder? It should be translated by whatever expression that makes it clear that the disease is typically observed defiiencia Lapp people!

In Spanish, French and Portuguese, the translation sounds like the lactase deficiency was discovered by Mr. Lapp lactase deficiency What lzctase the Lapp lactase deficiency? If you laftase a Best Practice personal account, your own subscription or have registered for a free trial, log in here:. Il Pensiero Scientifico pub.