wolman disease/diarreja

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Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report.

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Identifikohuni Regjistrohu

OBJECTIVE An inherited deficiency of human lysosomal acid lipase (LAL) results in the rare conditions of Wolman disease and cholesteryl ester storage disease (CESD). We want to present the rare case of CESD in an adult. METHODS We report about an adult female patient with severe chronic diarrhea and

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

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Identifikohuni Regjistrohu

Lysosomal acid lipase (LAL) deficiency is an under-recognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the first sibling presented with alternating episodes

Lysosomal acid lipase deficiency in Brazilian children: a case series.

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Identifikohuni Regjistrohu

To describe the demographic, clinical, laboratory and molecular characteristics of patients with lysosomal acid lipase deficiency.A retrospective review of the medical records of children with the disease.Seven children with

A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.

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Identifikohuni Regjistrohu

Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant

A case of acid lipase deficiency: Wolman's disease.

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Identifikohuni Regjistrohu

We report a case of Wolman disease, an unusual autosomal recessive disease characterized by storage of lipid in histiocytes. Storage of cholesteryl esters and triglycerides is caused by lysosomal acid lipase deficiency. This enzyme hydrolyses the cholesteryl esters of LDL thus allowing their

Wolman disease successfully treated by bone marrow transplantation.

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Identifikohuni Regjistrohu

Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. Lysosomal acid lipase deficiency is the cause of the symptoms and signs. It is inherited in an autosomal recessive manner. All Wolman disease patients have adrenal gland calcification. Previous

Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.

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Identifikohuni Regjistrohu

Cholesteryl ester storage disease (CESD, OMIM #278000) and Wolman disease (OMIM #278000) are autosomal recessive lysosomal storage disorders caused by a deficient activity of lysosomal acid lipase (cholesteryl ester hydrolase, LAL). Human lysosomal acid lipase is essential for the metabolism of

Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency.

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Identifikohuni Regjistrohu

Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes.

Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update.

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Identifikohuni Regjistrohu

Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

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Identifikohuni Regjistrohu

The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy. Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival

Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.

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Identifikohuni Regjistrohu

Wolman disease is the infantile form of autosomal recessive acid lipase deficiency, typically presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Hematopoietic cell transplantation (HCT) is the only therapy reported to

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

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Identifikohuni Regjistrohu

Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell

Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.

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Identifikohuni Regjistrohu

Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesterol esters and triglycerides. LAL is coded by the LIPA gene on chromosome 10q23.31. Its deficiency leads to two autosomal recessive disorders, Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD). WD has an

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

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Identifikohuni Regjistrohu

The lysosomal acid lipase (LAL) is the enzyme responsible of the hydrolysis of cholesteryl esters and triglycerides within endo-lysosomes. Loss of enzyme activity leads to accumulation of cholesteryl esters and triglycerides in the lysosome of most tissues. The complete deficiency of LAL is

Intractable ascites as a manifestation of Wolman's disease: report of two sibs.

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Identifikohuni Regjistrohu

Wolman disease (WD) is a rare, inherited, rapidly fatal condition presenting in early infancy. The disease manifests in the first month of life with failure to thrive, vomiting, diarrhea, abdominal distension, hepatosplenomegaly and bilateral adrenal calcification and is nearly always fatal before

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