ERRORES INNATOS METABOLISMO ENFERMEDADES LISOSOMALES PDF

Show simple item record. JavaScript is disabled for your browser. Some features of this site may not work without it. Show simple item record dc. Trabajo de grado. SPA dc.

Author:Kigajinn Fausho
Country:Brazil
Language:English (Spanish)
Genre:Environment
Published (Last):8 January 2012
Pages:52
PDF File Size:4.46 Mb
ePub File Size:16.1 Mb
ISBN:272-1-84402-887-9
Downloads:70635
Price:Free* [*Free Regsitration Required]
Uploader:Shaktizuru



It is an autosomal recessive disease where there is a deficiency of acid alpha-glucosidase GAA , an enzyme required for lysosomal glycogen degradation. We describe two infantile onset cases with heterogeneous presentations. Case reports: The first case is a newborn with maintained bradycardia, a cardiologic study revealed severe biventricular hypertrophy.

The second case is a 14 months old patient with motor delay and arreflexic hypotonia. Creatine kinase, lactate dehydrogenase, glutamic-oxaloacetic transaminase and glutamic-pyruvic trans aminase were high. The electromyogram showed myopathic alteration and the muscle biopsy vacuolar myopathy with glycogen accumulation.

In both of them, GAA activity was decreased and the genetic exam of the GAA gene revealed heterozygous mutations already described in Pompe disease. They started enzyme replacement therapy at 1 month old and 18 months old respectively, improving the cardiomyopathy hypertrophy, motor wise however less advance was seen. Conclusion: GAA is the only authorized option for Pompe disease treatment; the effects observed are similar to the ones described in the literature, with excellent outcome in the hypertrophic cardiomyopathy but less effective in the skeletal muscle.

Title: Variabilidad en la presentacion clinica de la enfermedad de Pompe infantil: presentacion de dos casos y respuesta al tratamiento con enzima recombinante humana.

La enfermedad de Pompe o glucogenosis tipo II es un error innato del metabolismo, de herencia autosomica recesiva, causado por un deficit de la enzima lisosomal alfa-glucosidasa acida GAA , que ocasiona un acumulo multisistemico de glucogeno.

Describimos dos casos de inicio temprano infantil con diferentes formas de presentacion. Casos clinicos. El primer caso se trata de un neonato que presento una bradicardia mantenida desde el nacimiento, lo que motivo el estudio cardiologico, en el que se evidencio una hipertrofia biventricular grave. En la analitica destacaban una creatincinasa, lactato deshidrogenasa, transaminasa glutamico oxalacetica y transaminasa glutamico piruvica elevadas.

El electromiograma mostro signos de afectacion miopatica, y la biopsia muscular, una miopatia vacuolar con deposito de glucogeno. En ambos, la actividad de la GAA estaba disminuida y el analisis genetico del gen GAA evidencio que eran portadores heterocigotos de mutaciones descritas en la enfermedad de Pompe. Iniciaron tratamiento con enzima recombinante humana al mes y a los 18 meses de vida, respectivamente, con mejoria evidente de la miocardiopatia hipertrofica, aunque mas limitada a nivel motor.

La GAA recombinante humana es la unica opcion terapeutica autorizada para estos pacientes. Los efectos que hemos observado son similares a los descritos en otros casos, con una excelente evolucion de la miocardiopatia hipertrofica y un efecto variable sobre la musculatura esqueletica.

This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features! Clipboard, Search History, and several other advanced features are temporarily unavailable. Search: Search. Advanced Clipboard.

Create file Cancel. Email citation To:. Format: Summary Summary text Abstract Abstract text. Send email Cancel. Add to Collections Create a new collection Add to an existing collection. Name your collection: Name must be less than characters. Choose a collection: Unable to load your collection due to an error Please try again. Add Cancel. Add to My Bibliography My Bibliography. Unable to load your delegates due to an error Please try again. Your saved search Name of saved search:.

Search terms:. Test search terms. Would you like email updates of new search results? Email: change. Frequency: Monthly Weekly Daily. Which day? Send at most: 1 item 5 items 10 items 20 items 50 items items items. Send even when there aren't any new results. Optional text in email:. Save Cancel. Create a file for external citation management software Create file Cancel. Full-text links Cite Favorites. Abstract in English , Spanish. Similar articles Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

Medicine Baltimore. Ley-Martos M, et al. Rev Neurol. PMID: Spanish. Guevara-Campos J, et al. Novel GAA sequence variant c. Nilsson MI, et al. Epub Dec PMID: Pompe disease: literature review and case series. Dasouki M, et al. Neurol Clin. Show more similar articles See all similar articles.

Cited by 1 article Infantile-onset Pompe disease with neonatal debut: A case report and literature review. Publication types Case Reports Actions. English Abstract Actions. Disease Progression Actions. Gene Duplication Actions.

Genotype Actions. Humans Actions. Infant Actions. Infant, Newborn Actions. Phenotype Actions. Point Mutation Actions. Treatment Outcome Actions. Substances Recombinant Proteins Actions.

Glucan 1,4-alpha-Glucosidase Actions. Full-text links [x] Viguera Editores, S. Copy Download.

LOBOS DONATO CARRISI PDF

Trastorno metabólico

Publication date Print : December Summary Krabbe disease is a genetic condition with recessive autosomal inheritance mechanism and very low incidence. Is determined by deficiency in activity of the lysosomal enzyme beta-galactosidase-galactocerebroside or galactosilcerebrosidasa. Has different forms: children, youth and adulthood. In Uruguay genetic diseases are a major cause of morbidity and mortality. The recognition by the pediatrician in an early clinical elements, is key to early diagnosis.

DELONGHI ESAM3300 PDF

Enfermedad de Krabbe: A propósito de un caso clínico

Send correspondence to. Six out of the 10 mutant alleles were identified. Taken together with a previous study, which included six unrelated families, common mutations among Brazilian patients were p. NT, p. GS and p. Among one hundred control subjects three novel silent mutations were found p.

CONSOLIDATING DUPLICATE FONTS PDF

It is an autosomal recessive disease where there is a deficiency of acid alpha-glucosidase GAA , an enzyme required for lysosomal glycogen degradation. We describe two infantile onset cases with heterogeneous presentations. Case reports: The first case is a newborn with maintained bradycardia, a cardiologic study revealed severe biventricular hypertrophy. The second case is a 14 months old patient with motor delay and arreflexic hypotonia. Creatine kinase, lactate dehydrogenase, glutamic-oxaloacetic transaminase and glutamic-pyruvic trans aminase were high. The electromyogram showed myopathic alteration and the muscle biopsy vacuolar myopathy with glycogen accumulation. In both of them, GAA activity was decreased and the genetic exam of the GAA gene revealed heterozygous mutations already described in Pompe disease.

Related Articles