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.

Author: Mitilar Goshicage
Country: Bangladesh
Language: English (Spanish)
Genre: Sex
Published (Last): 21 November 2016
Pages: 425
PDF File Size: 8.14 Mb
ePub File Size: 11.18 Mb
ISBN: 590-7-87546-121-5
Downloads: 80428
Price: Free* [*Free Regsitration Required]
Uploader: Akinolrajas

Choose one of the access methods below or take a look at our subscribe or free trial options.

However, no association was found between these variants and congenital lactase deficiency in 19 Finnish families. Lapp lactase deficiency What is the Lapp 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. In disaccharide intolerance II, cellobiose intolerance would be expected as well as that for lactose. Liver damage is also observed.

Lapp is a derogatory term for the Samis, which total around Sign up for a Reficiencia trial. A subscription is required to access all the content in Best Practice. Several groups described what may be a distinct disorder. 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.

In a breastfed infant who developed watery diarrhea on the third day of life, Deciciencia et al. Segregation analysis, assuming complete ascertainment, showed agreement with the number expected.


The 16 cases included 4 pairs of sibs. Lapp in their lab. Please enter a valid username and password and try again. In this disorder an almost total lack of lactase-phlorizin hydrolase activity is found in jejunal biopsy material. By linkage analysis in 19 Finnish families, Jarvela ed al. Lactose, not normally found in the blood, may have toxic effects as does fructosephosphate in fructose intolerance and galactosephosphate in galactosemia Il Pensiero Scientifico pub. Unfortunately, it is not free to produce.

It should be translated by whatever expression that makes it clear that the disease is typically observed among Lapp people! Expert curators review the literature and organize it to facilitate your work. Severe lactose intolerance with lactosuria and vomiting. 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 lactaxe spotless. With the virtual disappearance of diarrhea as a cause of death in the first year lactqse life, the lavtase believed that every case of congenital lactase deficiency in their population was discovered.

Subscription required

Congenital lactase deficiency is one of the approximately 30 rare recessive disorders that are relatively common in Finland. Until internet opened new horizons, what was written in books, in the law or in publications by recognised institutions was often considered spotless. Yes, English can be a very concise language and English speakers can 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.

Severe congenital lactose intolerance was viewed by some as a transient form of congenital lactase deficiency.

Moreira Jr Editora | RBM Revista Brasileira de Medicina

Convincing direct demonstration of absent lactase in biopsies obtained in infancy has been achieved only twice before, according to the authors. In patients with congenital lactase deficiency, Kuokkanen et al. Affected sibs were reported by Holzel et al. Endocrine and Genetic Diseases of Childhood.


I pazienti con rari problemi ereditari di intolleranza al galattosio, carenza di Lapp lattasi o malassorbimento di glucosio-galattosio non devono assumere questo medicinale. 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 A funny but extremely common mistranslation: Mutations in the translated deficienciia of the lactase gene LCT underlie congenital lactase deficiency.

Specificity of the human intestinal disaccharidases and implications for hereditary disaccharide intolerance. In Spanish, French and Portuguese, the translation sounds like the lactase deficiency was discovered by Mr. We will respond to all feedback.

Take a look at our subscription options. We need long-term secure funding to provide you the information that you need at your fingertips. CC ].

Lactose by Valdeth Menezes on Prezi

What does Lapp mean? Congenital lactose intolerance of gastrogen origin associated with cataracts. The Lapp lactase deficiency is a rare hereditary condition… but not rare at all in the pharmaceutical industry!

Or maybe it was discovered at the Lapp University in Lapland… Why not? Register with deviciencia access code If you have been provided an access code, you can register it here: