Subscriber. If you already have your login data, please click here. If you have forgotten your password you can you can recover it by clicking here and selecting . La enfermedad de Neimann-Pick hace que se almacene material en exceso en el interior de las células (enfermedad metabólica de. Keywords: Niemann-Pick (NP) disease, miglustat, clinical trial, treatment. Go to: .. Enfermedad de Niemann-Pick tipo C. Revista Mexicana de Neurociencia.

Author: Kagajind Malakree
Country: Zambia
Language: English (Spanish)
Genre: Business
Published (Last): 7 November 2016
Pages: 54
PDF File Size: 11.94 Mb
ePub File Size: 9.96 Mb
ISBN: 842-3-30002-737-3
Downloads: 40131
Price: Free* [*Free Regsitration Required]
Uploader: Shakami

Besides degradation of polymers, the enfermedad de niemann pick is involved in cell processes, including secretion, plasma membrane repair, cell signaling. Subscribe to our Newsletter. Only comments seeking to improve the quality and accuracy of information enfeermedad the Orphanet website are accepted.

Niemann-Pick disease treatment: a systematic review of clinical trials

In most study cohorts the majority of patients were women. Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: In addition, there are differences among studies in the neurological parameters reported. Unfortunately no treatment has yet proven able to change the actual course of NPC. In the scientific literature, clinical trials on NP are scarce, and some observational studies have reported on the effects of miglustat in NPC patients 2031 Sphingolipidoses, or disorders of sphingolipid metabolism, have impact on neural tissue.

Additional information Further information on this disease Classification s 7 Gene s 2 Other website s 4. Trial results were divided according to the onset of NP. The Journal is published both in Spanish and English.

It is a monthly Journal that publishes a total of 12 issues, which contain these types of articles to different extents. Enzymes enfermedad de niemann pick, or catalyze, chemical reactions, the molecules at the enfermedad de niemann pick of the process upon which enzymes may act are called substrates and the enzyme converts these into different molecules, called products.


In summary, at present there are only published clinical trials investigating the treatment for one specific type of NP disease, NPC. Check this box if you wish to receive a copy of your message. This disease is described under Niemann-Pick disease type C.

De novo sphingolipid synthesis begins with formation of 3-keto-dihydrosphingosine by serine palmitoyltransferase, the preferred substrates for enfermedad de niemann pick reaction are palmitoyl-CoA and serine 6. Enfermedad de Efermedad — Pick C. Methods Study selection A search was conducted in ScienceDirect and PubMed to identify all the clinical trials available for the treatment of NP disease.

Organisms inherit genetic material from their parents in the form of homologous chromosomes, the nemann location of a DNA sequence within a chromosome is known as a locus. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

This article has been cited by other articles in PMC.

Enfermedad de Niemann- Pick | HCA Healthcare

NP disease encompasses a set of autosomal recessive hereditary abnormalities 1 characterized by the accumulation of lipids, mostly sphingomyelin and cholesterol, in different organs such as spleen or liver 145. Nuemann, the authors studied the effects of diet, DMSO for its effects on cholesterol transport and enfermsdad drugs frequently used for the treatment of hypercholesterolemia, i.

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: Mol Genet Metab ; Am J Surg Pathol ; Pikc disease type C, classic form Prevalence: Niemwnn there is no uniformity among the different study outcomes, making it very difficult to conclude which is the most appropriate therapy that is currently available for NP.


Although NPC symptoms are variable and can occur ve any age 14when they start in early life the clinical presentation is characterized by more manifest, faster neuronal degeneration 1314 Evidence of an enzymatic deficiency in Niemann-Pick diseae. However, during the treatment epistaxis and thrombocytopenia, insomnia, leukopenia, behavioural problems, extrapyramidal symptoms, tremors, hypertransaminasemia, and especially weight loss or diarrhea, were detected in some patients.

Among them, 7 were excluded with reasons Figure 1. Int J Surg ; 8: Six of the eenfermedad trials used miglustat Table 3. Other types of articles such as reviews, editorials, special articles, clinical reports, and letters to the Editor are also published in the Journal.

Enfermedad de Niemann-Pick C. The role of cholesterol in endocytosis of these types can be investigated by using methyl beta cyclodextrin to remove cholesterol from the plasma membrane, in multiple layers, cholesterol and phospholipids, both electrical insulators, can facilitate speed of transmission of electrical impulses along nerve tissue. Outcome data on swallowing, language, manipulation, seizures, cognition, ocular movements and ambulation were limited, or not shown in two of the studies 1217 Table 4.

Use of a protein sequence of localisation and endolysosomal degradation.

Are you a health professional able to prescribe or dispense drugs? European journal of clinical investigation. Owing to the low number of clinical trials assessing NP treatment and the lack of additional information, it is not yet possible to make a comparison between the different types of treatments for this disease.

Enfermedad de Niemann-Pick tipo C. Causas La enfermedad de Niemann-Pick es hereditaria.