Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?

Maines, Evelina; Roberto, Franceschi; Rizzardi, Caterina; Deodato, Federica; Giovanni, P.; Gragnaniello, Vincenza; Burlina, A; Soffiati, Massimo

doi:10.1016/j.jacl.2022.01.008

Cited by 2 publications

(3 citation statements)

References 38 publications

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“…Among the typical symptoms of this disease are hepatosplenomegaly, pulmonary involvement, bronchopneumonias, hepatic cirrhosis, portal hypertension, ascites, ataxia, and peripheral neuropathy. [15][16][17] By studying a 55-year-old Caucasian woman, Ortega et al found that she had NPD type B according to her symptoms. Following the misdiagnosis of his disease at the age of 2 with Gaucher's disease, some of her symptoms and signs progressively worsened, such as mild dyspnea, wide jaw, wrinkles on the cheek and forehead along with discoloration, lung crackles, hepatosplenomegaly, central vascular congestion, and pulmonary infiltration.…”

Section: Type Bmentioning

confidence: 99%

“…In terms of survival, children with type B disease usually survive into adulthood. Among the typical symptoms of this disease are hepatosplenomegaly, pulmonary involvement, bronchopneumonias, hepatic cirrhosis, portal hypertension, ascites, ataxia, and peripheral neuropathy 15‐17 . By studying a 55‐year‐old Caucasian woman, Ortega et al found that she had NPD type B according to her symptoms.…”

Section: Clinical Featuresmentioning

confidence: 99%

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Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Hosseini,

Fallahi,

Razban

et al. 2024

Cell Biochemistry & Function

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Niemann–Pick disease (NPD) is another type of metabolic disorder that is classified as lysosomal storage diseases (LSDs). The main cause of the disease is mutation in the SMPD1 (type A and B) or NPC1 or NPC2 (type C) genes, which lead to the accumulation of lipid substrates in the lysosomes of the liver, brain, spleen, lung, and bone marrow cells. This is followed by multiple cell damage, dysfunction of lysosomes, and finally dysfunction of body organs. So far, about 346, 575, and 30 mutations have been reported in SMPD1, NPC1, and NPC2 genes, respectively. Depending on the type of mutation and the clinical symptoms of the disease, the treatment will be different. The general aim of the current study is to review the clinical and molecular characteristics of patients with NPD and study various treatment methods for this disease with a focus on gene therapy approaches.

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Section: Type Bmentioning

confidence: 99%

Section: Clinical Featuresmentioning

confidence: 99%

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Hosseini,

Fallahi,

Razban

et al. 2024

Cell Biochemistry & Function

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show abstract

“…Hepatosplenomegaly may be severe and lead to symptoms of liver failure in patients with NP disease type B, but they show no obvious symptoms of brain involvement [7][8][9][10] . The NP disease affects the body's ability to metabolize cholesterol and lipids in cells, thus leading to an increase in serum triglyceride and LDL-cholesterol levels, and a decrease in HDL-cholesterol levels 11 . In some patients, eyes may also have a reddish-brown halo surrounding the macula, and rarely a distinct cherry-red spot can be seen 12 .…”

Section: Introductionmentioning

confidence: 99%

Metabolic improvement in patients with Niemann-Pick disease following intravenous trehalose administration: An untargeted pharmacometabolomic study

Khoshakhlagh

Hasanpour

Iranshahi

et al. 2023

Preprint

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Niemann-Pick (NP) types A (NPA) and B (NPB) are life-threatening and rare inherited lysosomal storage disorders, caused by a deficiency in the acid sphingomyelinase enzyme activity. The negative outcome of this deficiency is the sphingomyelin (SM) accumulation in different organs and tissues. Trehalose is a natural disaccharide with neuroprotective and autophagy-inducing abilities which has recently been shown to improve clinical and biochemical features of patients with NPA/B. Changes in the serum metabolome were assessed in five patients with NPA/B, who received 15 g/week of trehalose intravenously for three months, using an untargeted gas chromatography-mass spectrometry (GC-MS) method. MSDIAL was used for data processing, and PCA, and OPLS-DA were carried out using SIMCA. OPLS-DA model revealed significant changes in several serum metabolites including phosphate (P = .0019), sorbitol (P = .00009), myoinositol (P = .02), threonine (P = .01), lactic acid (P = .0001), 1-monopalmitin (P = .01), threitol (P = .002), ribitol (P = .008), and D-ribose (P = .007) following trehalose treatment. The findings revealed that the beneficial effects of trehalose in patients with NP are mediated by metabolic alterations. A clear shift in glucose metabolism in favor of less fatty acid production together with facilitating the breakdown of sphingomyelins is involved in the observed protective activity.

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Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?

Cited by 2 publications

References 38 publications

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Metabolic improvement in patients with Niemann-Pick disease following intravenous trehalose administration: An untargeted pharmacometabolomic study

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