ENFERMEDAD DE WOLMAN PDF

Download Citation on ResearchGate | On Jan 1, , Paula Buitrago Mata and others published Enfermedad de Wolman: revisión y reporte de un caso }. Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase. Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. Lysosomal acid lipase deficiency is the.

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Lysosomal acid lipase deficiency

Send link to edit together this prezi using Prezi Meeting learn more: Infants with LAL deficiencies typically show signs of disease in the first weeks of life and if untreated, die within 6—12 months due to multi-organ failure. Do you really want to delete this prezi? Summary Epidemiology Enfermdad 50 cases have been reported in the literature. Check out this dde to learn more or contact your system administrator.

Specialty Endocrinology Lysosomal acid lipase deficiency LAL deficiency or LAL-Dalso known as Wolman diseaseis an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase LAL enzyme.

It is administered once a week via intraveneous infusion in people with rapidly progressing disease in the first six months of life. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Lysosomal Acid Lipase Deficiency. The in-depth resources contain medical and scientific language that may be hard to understand. As the disease progresses in infants, increasing fat accumulation in the liver leads to other complications including yellowing of the skin and whites of the eyes jaundiceand a persistent low-grade fever.

Infants may present with feeding difficulties with frequent vomiting, diarrhea, swelling of the abdomenand failure to gain weight or sometimes weight loss.

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Gynaecology Gynecologic oncology Maternal—fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology. Detailed information Professionals Clinical genetics review English Present to your audience.

December 9 ; http: Their feces may be excessively greasy. Because of these digestive complications, affected infants usually fail to grow and gain weight at the expected rate for their age failure to thrive. Medical and Science Glossaries. Stand out and be remembered with Prezi, the secret weapon of great presenters. Other search option s Alphabetical list. Houston, we have a problem! Add a personal note: The lack of the LAL enzyme can lead to a build-up of fatty material in ehfermedad number of encermedad organs including the liverspleengutin the wall of blood vessels and other important organs.

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Orphanet: Enfermedad de Wolman

Lysosomal acid lipase deficiency–an under-recognized cause of dyslipidaemia and liver dysfunction. Click on the link to view information on this topic. Later, severe anemia and cachexia become apparent. Houston, we have a problem!

Send link to edit together this prezi using Prezi Meeting learn more: The presence of calcified adrenal glands as revealed by radiographyis a nearly constant and very characteristic sign.

In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling enfermedav enfermedad de wolman with specific inherited conditions. Lysosomal acid lipase deficiency Ebfermedad deficiency or LAL-Dalso known as Wolman diseaseis an autosomal recessive inborn error of metabolism that results in the womlan not producing enough active lysosomal acid lipase LAL enzyme.

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Clinical description The disease can sometimes present in the fetus hepatomegaly, ascitis, calcified adrenal glandsbut onset more typically occurs in the first weeks of life with abdominal distension and major or even massive hepatosplenomegaly which can occur in the neonatal period and sometimes ascitis.