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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Argos Traducciones y Servicios Profesionales, S. If your hospital, university, trust or other institution provides access to Best Practice, log in via the appropriate link below: Unfortunately, it is not free to produce.

The Finnish collection of 16 patients was especially impressive in light of the fact that only 18 cases had been reported elsewhere. The Lapp lactase deficiency is a rare hereditary condition… but not rare at deficienci in the pharmaceutical industry!

In disaccharide intolerance II, cellobiose intolerance would be expected as well as that for lactose. 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. Specificity of kactase human intestinal disaccharidases and implications for hereditary disaccharide intolerance.

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If you have a Best Practice personal account, your own subscription or have registered for a free trial, log in here: The moral of this story is… Until internet opened new horizons, what was written in books, in the law or in publications by recognised institutions was often considered spotless. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.


With the virtual disappearance of diarrhea as a cause of death in the first year of life, the authors believed that every case of congenital lactase deficiency in their population was discovered. In plain words, this expression defciencia Severe familial lactose intolerance–a gastrogen disorder?

Then how do we believe should it be translated? Endocrine and Genetic Diseases of Childhood. Sucrose, maltose, and starch are well tolerated.

It is a more serious disorder with vomiting, failure to thrive, dehydration, disacchariduria including lactosuria, renal tubular acidosis, and amino aciduria.

Congenital lactase deficiency is one of the approximately 30 rare recessive disorders that are relatively common in Finland. Lactosuria and amino-aciduria in infancy: CC ]. You will see why. Clinical Synopsis Toggle Dropdown. I have some feedback on: Choose one of the access methods below or take a look at our subscribe or free trial options. What shows this article is that there is no harm in questioning well-established standards!

In patients with congenital lactase deficiency, Kuokkanen et al. The 16 cases included 4 pairs of sibs. 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 dd mutations affecting the structure of the protein with inactivation of the enzyme.

They made the additional important observation of cataracts in the male proband, his father, 2 paternal uncles, and his oactase grandfather, all of whom had lactosuria. If your deficienxia, university, trust or other institution provides access to Best Practice, log in via the appropriate link below:. 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.


Lapp is a derogatory term for the Samis, which total around A sister of the proband was probably identically affected. The disorder occurs with breastfeeding as well as bottle-feeding.

Deficienccia sibs were reported by Holzel et al. In Spanish, French and Portuguese, the translation sounds like the lactase deficiency was discovered by Mr. We need long-term secure funding to provide you the information that you need at your fingertips.

A funny but extremely common mistranslation: Lapp lactase deficiency – ARGOS TSP S.L

Everything was fine… until this standard statement was translated into other languages! Take a look at our subscription options. The late consequences of this genetic disorder were not fully known. Segregation analysis, assuming complete ascertainment, showed agreement with the number expected.

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