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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Lactose, not normally found in the blood, may have toxic effects as does fructosephosphate in fructose intolerance and galactosephosphate in galactosemia On the package leaflet of virtually every drug product containing lactose, the following deficjencia can be read: Lactosuria and amino-aciduria in infancy: Everything was fine… until this standard statement was translated into other languages! In Spanish, French deficienfia Portuguese, the translation sounds like the lactase deficiency was discovered by Mr.
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. You will see why. What does Lapp mean?
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Congenital lactose intolerance is probably a different disorder related to gastric absorption of lactose and lactosuria. Congenital lactose intolerance was first described by Durand They made the additional important observation of cataracts in the male proband, his father, 2 paternal uncles, and his paternal grandfather, all of whom had lactosuria.
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. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Several groups described what may be a distinct disorder. Expert curators review the literature and organize it to facilitate your work. Sucrose, maltose, and starch are well tolerated.
Your feedback has been submitted successfully. 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. Dahlqvist ; Darling et al. The entered sign-in details are incorrect.
Identification of a variant associated with adult-type hypolactasia.
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Poggi and Sebastio sequenced the exons, the exon-intron boundaries, and the promoter region of the lactase gene of a Finnish patient with congenital lactase deficiency. If your hospital, university, trust or other institution provides access to Best Practice, log in via the appropriate link below: Liver damage is also observed. Then why is Lapp lactase deficiency so common in the pharmaceutical industry? Lapp lactase deficiency What is the Lapp lactase deficiency?
No mutation leading to a missense, frameshift, or other change in amino acid sequence was found. By linkage analysis in 19 Finnish families, Jarvela et deficuencia. It should be translated by whatever expression that makes it clear that the disease is typically observed among Lapp people! A funny but extremely common mistranslation: Or maybe it was discovered at the Lapp University in Lapland… Why not? We are determined to keep this website freely accessible. Affected dwficiencia might have less atherosclerosis than the average because they avoid dairy products, just as persons with fructose intolerance have fewer dental caries.
We will respond to all feedback. Register with an access code If you have been deficienfia an access code, you can register it here: 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.
Endocrine and Genetic Diseases of Childhood. The 16 cases included 4 pairs of sibs.
What shows this article is that there is no harm in questioning well-established standards! Why can all these translations be considered inaccurate? Then how do we believe should it be translated? The late consequences of this genetic disorder were not fully known. Abnormal absorption of lactose and other disaccharides was suggested by the work of Berg et al.
Mutations in the translated region of the lactase gene LCT underlie congenital lactase deficiency. Congenital lactase deficiency is one of the approximately 30 rare recessive disorders that are relatively common in Finland.
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:.
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 Unfortunately, it is not free to produce. The disorder occurs with breastfeeding as well as bottle-feeding.
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. However, no association was found between these variants and congenital lactase deficiency in 19 Finnish families.
If you have a Best Practice personal account, your own subscription or have registered for a free trial, log in here:. Severe congenital lactose intolerance was viewed by some as a transient form of congenital lactase deficiency. Clinical Synopsis Toggle Dropdown. In this disorder an almost total lack of lactase-phlorizin hydrolase activity is found in jejunal biopsy material.