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A Rare Case of Niemann-Pick Disease Type-A. [PDF]

Cureus
Niemann-Pick disease is a rare lysosomal storage, autosomal recessive disorder that impairs the body's ability to metabolize fats, thus leading to accumulation within cells. It can affect various organs, most commonly the brain, liver, spleen, bone marrow and lungs.
Gul F, Begum S, Rasool P, Shah S, Waqar M.   +4 more
europepmc   +3 more sources

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice [PDF]

Molecular Genetics and Metabolism Reports
Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease that results in progressive loss of Purkinje neurons. Previous work has implicated dysregulation of glutamate signaling as a potential pathogenic mechanism.
Antony Cougnoux, Carolina S. Alvarez, Andrea Gutierrez Maria, Emelin Hernandez, Niamh X. Cawley, Cristin D. Davidson, Forbes D. Porter   +6 more
doaj   +2 more sources

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine, 2016
Niemann Pick type C (NP-C) is a rare neurodegenerative disorder caused by an impairment of intracellular lipid transport. Due to the heterogeneous clinical phenotype and the lack of a reliable blood test, diagnosis and therapy are often delayed for years.
Thorsten Marquardt, Stephan Rust
exaly   +3 more sources

CffDNA screening for Niemann–pick disease, type C1: a case series [PDF]

Frontiers in Medicine
Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions.
Sydney A. Lau, Romy I. Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M. Alajaji, Eissa Faqeih, Yanchun Li, Yanming Feng, Fan Xia, Fan Xia, Christine M. Eng, Christine M. Eng, Malak Abedalthagafi, Malak Abedalthagafi   +13 more
doaj   +2 more sources

Niemann-Pick disease type C [PDF]

Orphanet Journal of Rare Diseases, 1996
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120,000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological involvement defines the disease severity in most patients
S, Akaboshi, K, Ohno
  +8 more sources

Niemann-Pick disease type C with kidney involvement

Human Pathology: Case Reports, 2021
Niemann-Pick disease type C is a lysosomal storage disease characterized by defects in lipid trafficking, typically involving the liver, spleen, and central nervous system. Only rare reports of renal involvement of Niemann-Pick disease have been reported
Aanand A. Patel, Anthony Sisk, Jonathan E. Zuckerman   +2 more
doaj   +1 more source

Niemann-Pick Disease: Seven Questions about it

Вопросы современной педиатрии, 2023
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes.
Nato D. Vashakmadze, Nataliya V. Zhurkova   +1 more
doaj   +1 more source

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Journal of Medical Case Reports, 2022
Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and ...
Mohammad Barzegar, Fatemeh Valaee, Shadi Ghoreishizadeh   +2 more
doaj   +1 more source

Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

Frontiers in Genetics, 2022
Niemann–Pick disease is a relatively common lysosomal storage disease. Cholestatic liver disease is a typical clinical phenotype of Niemann–Pick disease in infancy. The diagnosis is traditionally based on Niemann–Pick cells in bone marrow smears or liver
Fan Chen, Shan Guo, Xuesong Li, Shengxuan Liu, Li Wang, Victor Wei Zhang, Hui Xu, Zhihua Huang, Yanqin Ying, Sainan Shu   +9 more
doaj   +1 more source

Monitoring of pregnancies with successful deliveries in a Niemann-Pick disease type B patient - case report and literature review [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2023
Introduction. Niemann–Pick disease type B is an autosomal recessive disease caused by sphingomyelinase deficiency resulting in sphingomyelin accumulation in macrophages of various organs. Visceral involvement includes spleen enlargement, thrombocytopenia,
Agić Danijela, Milošević Ivana, Mitić Gorana, Kavečan Ivana, Stojić Siniša   +4 more
doaj   +1 more source