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A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options. 2013

Zygmunt Jamrozik, and Piotr Szczudlik, and Agnieszka Lugowska, and Stefan Weiß, and Arndt Rolfs, and Barbara Czartoryska, and Hubert Kwieciński
Department of Neurology, Medical University of Warsaw, Warszawa, Poland. zygmunt.jamrozik@wum.edu.pl

Niemann-Pick disease type C is a rare hereditary disorder caused by mutation-disrupted metabolism of cholesterol and low-density lipoprotein (LDL). In most patients, symptoms begin in childhood with severe clinical progression. We present a patient with heterozygote mutations 3001A>G and 3019C>G with late onset of the disease and positive response to treatment with miglustat. Behaviour and educational problems in childhood were probably related to the disease diagnosed later.

UI MeSH Term Description Entries
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D004791 Enzyme Inhibitors Compounds or agents that combine with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. Enzyme Inhibitor,Inhibitor, Enzyme,Inhibitors, Enzyme
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017485 1-Deoxynojirimycin An alpha-glucosidase inhibitor with antiviral action. Derivatives of deoxynojirimycin may have anti-HIV activity. 1,5-Deoxy-1,5-imino-D-mannitol,1-Deoxymannojirimycin,1,5-Dideoxy-1,5-imino-D-mannitol,1-Deoxynojirimycin Hydrochloride,Bay n 5595,Moranoline,1 Deoxymannojirimycin,1 Deoxynojirimycin,1 Deoxynojirimycin Hydrochloride
D052556 Niemann-Pick Disease, Type C An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry. Niemann-Pick Disease Type C,Niemann-Pick Disease, Type D,Niemann-Pick Type C Disease,Niemann-Pick Type D Disease,Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia,Niemann-Pick Disease Type D,Niemann-Pick Disease with Cholesterol Esterification Block,Niemann-Pick Disease without Sphingomyelinase Deficiency,Niemann-Pick Disease, Chronic Neuronopathic Form,Niemann-Pick Disease, Nova Scotian,Niemann-Pick Disease, Type C1,Niemann-Pick disease, Subacute Juvenile Form,Niemann-Pick's Disease Type C,Niemann-Pick's Disease Type D,Nova Scotia (Type D) Form of Niemann-Pick Disease,Nova Scotia Niemann-Pick Disease (Type D),Niemann Pick Disease Type C,Niemann Pick Disease Type D,Niemann Pick Disease with Cholesterol Esterification Block,Niemann Pick Disease without Sphingomyelinase Deficiency,Niemann Pick Disease, Chronic Neuronopathic Form,Niemann Pick Disease, Nova Scotian,Niemann Pick Disease, Type C,Niemann Pick Disease, Type C1,Niemann Pick Disease, Type D,Niemann Pick Type C Disease,Niemann Pick Type D Disease,Niemann Pick disease, Subacute Juvenile Form,Niemann Pick's Disease Type C,Niemann Pick's Disease Type D,Nova Scotia Niemann Pick Disease (Type D)
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults

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