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Niemann Pick disease types

Types A and B Niemann-Pick Diseas

  1. al work from the laboratory of Dr. Rosco Brady defined the molecular basis of Types A, B and C Niemann-Pick disease (NPD), and paved the way for the development of the new therapies for these diseases
  2. Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition
  3. Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. [1] [2] Signs and symptoms typically develop in the pre-teen years and may include enlarged liver and spleen ( hepatosplenomegaly ), short stature, problems.
  4. Types A and B are allelic disorders. Niemann-Pick diseases designated types C1 and D ( 257220) are caused by mutations in the NPC1 gene (18q11-q12) and type C2 ( 607625) from mutations in the NPC2 gene (14q24.3). Enzyme replacement therapy trials are underway
  5. There are three types of Niemann-Pick disease that are all considered rare and under the broader category of Lysosomal Storage Diseases. The three types include: Niemann-Pick Type A and B (ASMD or Acid Sphingomyelinase Deficiency) Niemann-Pick Type C. Niemann-Pick diseases (Types A, B and C) occurs when two copies of the mutated (defective) gene.
  6. There are four types of Niemann-Pick disease in two categories. Patients with ASM deficiency are classified into type A and B. Type A patients exhibit hepatosplenomegaly in infancy and profound central nervous system involvement and unable to survive beyond two years of age
  7. Niemann-Pick diseases are a group of rare and devastating inherited lysosomal storage disorders that can affect both children and adults: Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NPA) and type B (NPB), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body

Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. These types are classified on the basis of genetic cause and the signs and symptoms of the condition Types A and B Niemann-Pick disease both result from the deficient activity of the lysosomal hydrolase, acid sphingomyelinase (E.C. 3.1.4.12). Type A Niemann-Pick disease is a severe neurodegenerative disorder of infancy which leads to death by three years. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body

Niemann-Pick disease Type C (NPC) is caused by an accumulation of cholesterol and other fatty substances in the liver, brain and spleen. Diagnosis Niemann-Pick disease Type C (NPC) is difficult to diagnosis as the symptoms are non-specific to the disease and will vary from person to person Niemann-Pick disease is divided into four main types: type A, type B, type C1, and.

Traditionally, NPD is classified into four subtypes: type A, B, C, and E. Type A is known as infantile neurovisceral form with very low acid sphingomyelinase (ASM) activity and is usually fatal before the age of three. It affects younger children and results in neurological deficits and impaired growth Niemann-Pick Disease, Types A and B. Both Niemann-Pick disease type A and type B are caused by defects in the lysosomal hydrolase, acid sphingomyelinase, ASMase (gene symbol: SMPD1, sphingomyelin phosphodiesterase-1). Type A Niemann-Pick disease is associated with a rapidly progressing neurodegeneration leading to death by 2 to 3 years of age

microvesicular steatosis - Humpath

Niemann-Pick type C disease (NPC) is a sphingolipid-storage disorder that results from inherited deficiencies of intracellular lipid-trafficking proteins, and is characterised by an accumulation of cholesterol and glycosphingolipids in late endosomes and lysosomes. Patients with this disorder develo Niemann-Pick Disease (Sphingomyelin Lipidosis) Niemann-Pick disease is a group of lysosomal storage diseases usually inherited in an autosomal recessive fashion. The three most commonly recognized forms are types A, B, and C. Types A and B are both caused by mutations in the sphingomyelin phosphodiesterase-1 gene (SMPD1), which encodes acid. Niemann-Pick signs and symptoms may include: Clumsiness and difficulty walking; Excessive muscle contractions (dystonia) or eye movements; Sleep disturbances; Difficulty swallowing and eating; Recurrent pneumonia; The three main types of Niemann-Pick are types A, B and C. The signs and symptoms you experience depend on the type and severity of your condition Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. There are three common forms of the disease: Type A. Type B. Type C. Each type involves different organs. It may or may not involve the nervous system and breathing It is commonly known as Niemann-Pick disease (NPD) type A, type B, or type A/B. The original description of NPD referred to what is currently termed NPD type A, which is a fatal disorder of early childhood characterized by failure to thrive , hepatosplenomegaly, and a rapidly progressive neurodegenerative course that leads to death by age 2-3 years

Niemann-Pick disease: MedlinePlus Genetic

Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue Rostock International Parkinson's Disease Study (ROPAD) Hereditary Transthyretin-Related Amyloidosis and Longitudinal Monitoring of TTR Positive Subjects (TRAMmoniTTR) Peptide-Based Immunization for Colon- and Pancreas-Carcinoma (PiCoP-GLOBAL) Epidemiological Analysis for Hereditary Angioedema Disease (EHA

Niemann-Pick type B is a heterogenous disease with multiple possible presentations. Our three cases have pulmonary involvement with different degrees of involvement and respiratory symptoms. Usually when present, respiratory symptoms are mild with recurrent cough, exertional dyspnoea and recurrent infections but rapidly fatal and progressive lung disease have also been reported [1] Niemann-Pick type C (NPC) (colloquially, Childhood Alzheimer's) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann-Pick type C affects an estimated 1:150,000 people. Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade Niemann-Pick Disease (Type A) - Market Insight, Epidemiology and Market Forecast -203 Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by Crocker (1961): the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; 257220 ), and the Nova Scotian variant (type D; see 257220 ) Niemann-Pick type C1 (NP-C1) is a fatal, progressive neurodegenerative disease caused by mutations in the NPC1 gene. Mutations of NPC1 can result in a misfolded protein that is subsequently marked for proteasomal degradation. Such loss-of-function mutations lead to cholesterol accumulation in late endosomes and lysosomes. Pharmacological chaperones (PCs) are described to protect misfolded.

Niemann-Pick disease type B Genetic and Rare Diseases

  1. Niemann-Pick disease type A and type B, or NPD-A and NPD-B, which are subtypes of acid sphingomyelinase or ASM deficiency, are rare, genetically inherited conditions characterized by the inability to break down a fat called sphingomyelin due to a deficiency of the enzyme, acid sphingomyelinase.. There's also Niemann-Pick disease type C, which is known to be caused by mutations in the genes.
  2. Niemann-Pick Disease is a chronic neurodegenerative disorder that arises from an accumulation of lipids in the liver, brain, and spleen. Lipids is another term used to denote rigid fats in the body. This ailment can affect a person in a multiple and distinctive manner as there are several kinds of classification that this disease possesses
  3. g it Niemann-Pick disease.1 Allen Crocker and Roscoe Brady described the biochemical aspects of NPD and classified it in four types: A, B, C and D in 1961 and 1966.1,3 NPD is classified according to the genetic mutation and clinical features. NPD types A and B are caused by an acid sphingomyelinas
  4. Niemann-Pick disease (types A and B) is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme acid sphingomyelinase. The clinical presentation of type A disease is characterized by jaundice, progressive loss of motor skills, feeding difficulties, learning disabilities, and hepatosplenomegaly
  5. Niemann-Pick disease type A should be suspected in a newborn child that has a large liver and spleen (hepatosplenomegaly), developmental delay, lung disease, and cherry-red spot found on an eye exam. Type B should be suspected in a child or older person with a large liver and spleen (hepatosplenomegaly), lung disease, high levels of fats in the.
  6. Niemann-Pick disease types A and B arise due to mutations in the SMPD1 gene. It is a hereditary disease that inherits in an autosomal recessive pattern. This gene is required by the cells to.

Niemann-Pick Disease, Types A and B Hereditary Ocular

There are several types of Niemann-Pick disease; this study focused on mice that had been bred with a faulty NPC1 gene to model Niemann-Pick disease, type C1. The researchers' goal was to correct the faulty NPC1 gene in as many cells and organs as possible, with a strong focus on the brain Niemann-Pick type C disease (NPCD) was first described in 1914 and affects approximately 1 in 150 000 live births. It is characterized clinically by diverse symptoms affecting liver, spleen, motor control, and brain; premature death invariably results. Its molecular origins were traced, as late as 1997, to a protein of late endosomes and. Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an. niemann pick type b Introduction Niemann-Pick disease (NPD) is a rare lysosomal storage disorder (LSD) inherited in an autosomal recessive pattern. Lysosomes are cellular organelles involved in degrading and recycling cellular waste, cellular signalling and energy metabolism. Lysosomal diseases are the result of defects in genes encoding lysosoma Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon

Niemann-pick C1-like 1 (NPC1L1) protein in intestinal and

Niemann-Pick disease type B (607616) is an allelic disorder characterized by visceral involvement only and survival into adulthood. Description. Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration. Niemann-Pick disease is a rare genetic condition that affects many of the body's organs and systems, including the central nervous system. It is one of about 50 diseases classified as lysosomal storage disorders (LSD), where a genetic variation disrupts the normal activity of lysosomes in human cells. Niemann-Pick disease type A is a subtype. Biomedical research aims to understand the molecular mechanisms causing human diseases and to develop curative therapies. So far, these goals have been achieved for a small fraction of diseases, limiting factors being the availability, validity, and use of experimental models. Niemann-Pick type C (NPC) is a prime example for a disease that lacks a curative therapy despite substantial. Niemann-Pick Disease Type C Alzheimer's Disease A rare, fatal and progressive genetic disorder characterized by a defect in the NPC1 protein causing cholesterol and lipids to accumulate in cells of major organs leading to cell and tissue dysfunction and death Niemann-Pick disease is a rare genetic medical condition. There are four variants of this disease, categorized as type A, type B, type C, and type D. Niemann-Pick disease causes a variety of medical problems, and it often advances rapidly

NIEMANN-PICK DISEASES - Niemann-Pick Canad

  1. Niemann-Pick disease type C (NPC) is a rare, genetic, progressive neurodegenerative disorder with high unmet medical need. We investigated the safety and efficacy of arimoclomol, which amplifies the heat shock response to target NPC protein misfolding and improve lysosomal function, in patients with NPC
  2. Niemann-Pick disease (type A) is an autosomal recessive condition. Prevalence. Of the three main types of Niemann-Pick disease (type A, B and C), type A is the only one which is more prevalent among people of Ashkenazi Jewish ancestry relative to the general population. The carrier frequency in the Ashkenazi Jewish population is approximately 1.
  3. Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, was historically divided into two phenotypes: Niemann-Pick disease type A (OMIM 257200) - a neuronopathic, rapidly progressing and fatal disorder, and Niemann-Pick disease type B (OMIM 607616) - a non-neuronopathic, slowly progressive, visceral disorder [1, 2]
  4. Niemann-Pick C1 disease (NPC, OMIM # 257,220) is an autosomal recessive, neurodegenerative lysosomal storage disorder with variable clinical phenotypes [1,2,3,4].The most common presentation of NPC disease is a child of either sex developing coordination problems, dysarthria, and hepatosplenomegaly during early school-age years [3,4,5].This is accompanied by abnormal intracellular accumulation.
  5. CENTOGENE teams up with Insilico Medicine to improve therapeutic targets for Niemann-Pick disease type C Download PDF Copy Reviewed by Emily Henderson, B.Sc. Jan 21 202
  6. About Niemann-Pick Disease. Niemann-Pick disease is a group of rare and severe lipid storage disorders. It occurs when the body is unable to transfer sphingomyelin, a type of lipid, into the cells, causing them to accumulate in the lysosomes. This disease is divided into three types: A, B, and C. Between these types, severity, onset, and.
  7. Niemann-Pick disease type C (NPC) is a rare, genetic, progressively debilitating, and often fatal neurodegenerative disease. It belongs to a family known as lysosomal storage disorders and is.

Niemann-Pick disease - Wikipedi

Niemann-Pick Disease - NPU

Niemann-Pick disease type C (often shortened to NPC) is a very rare, inherited disease that causes damage to the nervous system over time. It results from an abnormal processing in body tissues of fatty substances (called lipids), particularly cholesterol. With the body being unable to properly break down these fats, an abnormally large. Niemann-Pick disease type C (NPC) is a rare and fatal neurovisceral lipid storage disorder that affects both children and adults. Whereas the disease in children is characterised by mental retardation, seizures and often rapid neurodegeneration, in adults the disease is characterised by slow cognitive decline, major neuropsychiatric illness and the development of ataxia and dystonia. Niemann-Pick disease type B. Bone marrow transplantation has been attempted in a few patients with Niemann-Pick disease type B, and encouraging results are reported. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B has been described, although the child had persistent graft versus host disease Niemann-Pick disease type B is a multisystem disease that affects the pulmonary, cardiovascular, abdominal, and skeletal systems. Cross-sectional imaging is well suited for detecting and assessing the various manifestations of this disease, which can be highly suggestive of the diagnosis when seen in combination Niemann-Pick disease type A/B is an inherited metabolic disorder where there is a defect in the enzyme called acid sphingomyelinase, which processes lipids (fats). As a result, affected individuals have accumulations of sphingomyelin, cholesterol, and other lipids in the cells of the liver, spleen, bone marrow, lungs, and central nervous system

Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a lipid essential for cellular function. Cellular cholesterol levels are tightly regulated, and mutations in either NPC1 or NPC2 lead to deficient transport and accumulation of. Niemann-Pick Disease is a chronic neurodegenerative disorder that arises from an accumulation of lipids in the liver, brain, and spleen. Lipids is another term used to denote rigid fats in the body. This ailment can affect a person in a multiple and distinctive manner as there are several kinds of classification that this disease possesses There are three types of Niemann-Pick Disease: Type A is a genetic disorder in which sphyingomyelin (ceramide phosphorylcholine) accumulates in cells of infants and young children. This condition causes the liver and the spleen to become enlarged and the child not to thrive NPABZ : Niemann-Pick disease (types A and B) is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme acid sphingomyelinase. The clinical presentation of type A disease is characterized by jaundice, progressive loss of motor skills, feeding difficulties, learning disabilities, and hepatosplenomegaly. Death usually occurs by age 3

Niemann-Pick Disease Types, Symptoms, Treatments, Life

Niemann-Pick disease type C. Dr Rohit Sharma and Assoc Prof Frank Gaillard et al. Niemann-Pick disease type c ( NPD-C or just NPC) is an autosomal recessive lysosomal storage disorder classed under Niemann-Pick disease on account of clinical similarities, namely hepatosplenomegaly and variable involvement of the central nervous system Niemann-Pick disease type B (NPD-B) is caused by a partial deficiency of acid sphingomyelinase activity and results in the accumulation of lysosomal sphingomyelin (SPM) predominantly in macrophages The National Niemann-Pick disease Foundation, Inc. (NNPDF) is a non-profit, patient advocacy and family support organization dedicated to supporting and empowering patients and families affected by Niemann-Pick disease, through education, collaboration and research Niemann-Pick disease types A and B are now considered a distinct disorder called acid sphingomyelinase deficiency. NORD has a separate report in the Rare Disease Database on this disorder. Niemann-Pick disease type D is an obsolete term for a condition in a group of individuals in Nova Scotia, Canada who have NPC due to a specific founder. Niemann-Pick disease is a group of inherited conditions caused by a faulty gene. Children with Niemann-Pick disease type C (NPC) lack a protein that the body needs to break down fats and cholesterol within cells. As a result, these substances build up in cells, causing progressive damage to the brain, liver, lungs, and other organs

Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body. In Niemann-Pick disease, harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow Niemann-Pick disease type C1 is an autosomal recessive, neurodegenerative disease with a frequency of one in 120,000 live births. Approximately 95 percent of cases are caused by mutations of the NPC1 gene, and the remaining 5 percent are caused by mutations in the NPC2 gene.Mutations that produce defective NPC1 protein, a cholesterol trafficking protein, lead to accumulation of unesterified.

Niemann-Pick type B disease

  1. Editor—Niemann-Pick disease type C (NP-C, MIM 257220) is a fatal autosomal recessive disorder characterised by progressive neurological deterioration and hepatosplenomegaly. NP-C patients can be classified into four major groups according to the onset of neurological symptoms, that is, early infantile, late infantile, juvenile, and adult forms, and the earlier the clinical onset the more.
  2. Niemann-Pick disease is a rare genetic condition that affects many of the body's organs and systems, including the central nervous system. It is one of about 50 diseases classified as lysosomal storage disorders (LSD), where a genetic variation disrupts the normal activity of lysosomes in human cells. Niemann-Pick disease type C, is a subtype.
  3. Niemann-Pick disease type C. Niemann-Pick C disease (NPC) is a lysosomal storage disorder which affects the brain and multiple other organs. It is a rare disease, with around 1 in 120,000 babies going on to develop NPC. However, this may be an underestimate, as medical professionals are still learning more about how to recognise the disease and.
  4. The history of Niemann-Pick type C disease (NPC) is both interesting and convoluted. Albert Niemann first recognized the disorder to be distinct and separate from the lysosomal storage disease reported by Philippe Gaucher in 1882. Ludwig Pick further defined the pathology of this separate disorder, and it was recognized as only affecting.
  5. Niemann-Pick Disease, Type C is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings).Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity
Pathology Outlines - Gaucher disease

Niemann-Pick disease type A Genetic and Rare Diseases

Niemann-Pick disease is group of rare disorders affecting the proper storage of fats across organs. According to the United States National Institute of Neurologic Disorders and Stroke, the condition occurs when harmful quantities of lipids accumulate in the brain, spleen, liver, lungs, and bone marrow.. There are various types of disease. The purpose of this study is to establish the natural history of the 3 diseases - Niemann-Pick Type A, B, and C (their characteristics, management and outcomes). The purpose of this study is to assess the safety and effectiveness of N-Acetyl-L-Leucine (IB1001) for the treatment of Niemann-Pick type C disease (NPC). The purposes of this study. Niemann-Pick Type C (NPC) disease is a progressive lysosomal storage disorder with an estimated incidence of 1:100,000-120,000 among newborns (1, 2), caused by an autosomal recessive mutation in. Niemann-Pick disease, type C (NPC) is a neurovisceral storage disease occurring as a result of defective intracellular (chole)sterol trafficking, caused by mutations in the NPC1 and NPC2 genes. Approximately 1/3 of cases present in adulthood, often with major mental illness, comorbid with ataxia, dysarthria, cognitive impairment and vertical.

Niemann-Pick Disease Information Page National Institute

Niemann Pick Disease Type C Market to Surpass US$ 378.8 Million by 2027. Niemann-Pick disease type C (NPC) belongs to a group of lysosomal storage disorders. The onset of symptoms for NPC may begin at different ages. It has been grouped as: infantile (after birth to less than 6 years), juvenile (6 to 15 years), and adults (15 years to greater) Abstract. Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids and other molecules but their exact function is still unknown

A region designated the NPC domain, conserved in yeast, nematode, and mouse, contains a leucine zipper. NP-C is distinct at clinical, biochemical, and molecular levels from the primary sphingomyelin lipidoses (Niemann-Pick disease types A [NP-A] and Niemann-Pick disease types B [NP-B], respectively]), with which it has traditionally been grouped Niemann-Pick disease. One year old male child presented with developmental delay and hepatospleenomegaly. His bone marrow aspirate smear showed clusters of foam cells having small and round nuclei and cytoplasm containing clear vacuoles of varying size. Enzyme studies confirmed the diagnosis of Niemann-Pick disease iagnose only the traumatic splenic rupture. Here, we present a case of postinjury splenic rupture resulting in splenectomy, where the patient was diagnosed with Niemann-Pick disease type B through histopathological examination and genetic testing. In forensic practice, in cases of isolation splenic rupture, full microscopy should be done to differentiate traumatic rupture from a spontaneous.

Niemann-Pick Disease Type C - NPU

  1. In the journal Nature Communications, scientists of the German Center for Neurodegenerative Diseases (DZNE) report new findings on the mechanisms of Niemann-Pick type C disease (NPC)
  2. Suggested remit: To evaluate the benefits and costs of arimoclomol within its marketing authorisation for treating Niemann-Pick disease type C for national commissioning by NHS England. Status: Awaiting development Process: HST ID number: 1312 Provisional Schedule.
  3. Niemann-Pick disease type C (NPC) is a lethal, autosomal recessive, lysosomal storage disorder characterized by neurodegeneration in early childhood and death in adolescence. The causative genes NPC1 (about 95% of cases) and NPC2 (about 5% of cases) are involved in the intracellular trafficking of lipids and cholesterol
  4. Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive lysosomal storage disease primarily caused by mutations in NPC1. NPC1 is characterized by abnormal accumulation of unesterified cholesterol and glycolipids in late endosomes and lysosomes. Common signs include neonatal jaundice, hepatosplenomegaly, cerebellar ataxia, seizures and.
  5. Introduction. Niemann-Pick disease, type C (NPC) is an autosomal recessive lysosomal storage disorder (LSD) with an incidence between 1 in 120 000 and 150 000 live births ().The majority of causative mutations (95%) have been identified in the lysosomal transmembrane protein NPC1 (NPC1 disease, OMIM #257220), whereas a much smaller proportion (5%) have been identified in the smaller soluble.
  6. Niemann-Pick disease refers to a group of autosomal recessive lipid storage disorders associated with a variable degree of neurological manifestations in addition to other organ involvement. Niemann-Pick disease is divided into types A-C. Of interest to neurologists is Niemann-Pick type C because of the association with neurological manifestations that are not confined to childhood

Niemann-Pick disease, type A (Concept Id: C0268242

Niemann-Pick disease type B. Bone marrow transplantation has been attempted in a few patients with Niemann-Pick disease type B, and encouraging results are reported. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B has been described, although the child had persistent graft versus host disease Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive.

Niemann-Pick Diseas

The disease was first discovered in 1914. A pediatrician who's name was Albert Niemann published a description about what now is known Niemann-pick disease type A. There are about 2392 people in the United states has this disease, that led the incidence rate to 0.00075% Background. Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal storage disorder resulting from mutations of either the NPC1 or the NPC2 gene, showing a wide spectrum of clinical phenotypes and a highly variable age at diagnosis, and most patients have normal routine examinations (MRI, cerebrospinal fluid, electrophysiology and so on).1-5 Thus, its diagnosis.

Metabolic Liver Disease of ChildhoodGenetic disorder — Wikipedia Republished // WIKI 2Gaucher Disease - Bioinformatikpedia