Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients

Chuang, Wei-Lien; Pacheco, Joshua; Cooper, Samantha; McGovern, Margaret M.; Cox, Gerald F.; Keutzer, Joan; Zhang, X. Kate

doi:10.1016/j.ymgme.2013.11.012

Cited by 73 publications

(61 citation statements)

References 21 publications

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“…The clinical utility of blood biomarkers such as lysosphingomyelin requires further study. 54 The frequency of NPA is higher among the Ashkenazi Jewish population, but NPA/B are panethnic with an estimated prevalence of 1:250,000 live births. 55 To date, there is no effective treatment, but clinical ERT trials are underway for NPB.…”

Section: Newborn Screening For Niemann-pick A/b Diseasementioning

confidence: 98%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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Section: Newborn Screening For Niemann-pick A/b Diseasementioning

confidence: 98%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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“…In addition to sphingomyelin, elevated levels of bis(monoacylglycero)phosphate (BMP) and lysosphingomyelin (sphingosine phosphcholine) are common as well [35,36]. Cholesterol (see below), glucocerebroside, lactosylceramide, and gangliosides, particularly ganglioside GM 3 , also are elevated, but not so much as in type C NPD.…”

Section: Disease Mechanismmentioning

confidence: 99%

Types A and B Niemann-Pick disease

Schuchman

Desnick

2017

Molecular Genetics and Metabolism

223

186

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The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Due to the pioneering work of Roscoe Brady and co-workers, we now know that there are two distinct metabolic abnormalities that account for NPD. The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM; “types A & B” NPD), and the second is due to defective function in cholesterol transport (“type C” NPD). Herein only types A and B NPD will be discussed. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2–3 years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings. All patients with types A and B NPD have mutations in the gene encoding ASM (SMPD1), and thus the disease is more accurately referred to as ASM deficiency (ASMD). Herein we will review the clinical, pathological, biochemical, and genetic findings in types A and B NPD, and emphasize the seminal contributions of Dr. Brady to this disease. We will also discuss the current status of therapy for this disorder.

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“…Two hexosylsphingosines (HexSph), galactosylsphingosine (GalSph) and glucosylsphingosine (GlcSph), respectively, were increased in patients with KD [9,10] and GD [4]. The deacetylated form of sphingomyelin, lysosphingomyelin (LysoSM) is elevated in NPA/B and NPC [11,12]. Recently, a novel biomarker, lyso-sphingomyelin-509 (LysoSM-509), has been established for the primary diagnosis of NPC [13].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

Polo

Burlina

Kolamunnage

et al. 2017

Clinical Chemistry and Laboratory Medicine (CCLM)

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Background: Lysosphingolipids (LysoSLs) are derivatives of sphingolipids which have lost the amide-linked acyl chain. More recently, LysoSLs have been identified as storage compounds in several sphingolipidoses, including Gaucher, Fabry and Niemann-Pick diseases. To date, different methods have been developed to measure each individual lysosphingolipid in plasma. This report describes a rapid liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) assay for simultaneous quantification of several LysoSLs in plasma. Methods: We analyzed the following compounds: hexosylsphingosine (HexSph), globotriaosylsphingosine (LysoGb3), lysosphingomyelin (LysoSM) and lysosphingomyelin-509 (LysoSM-509). The sample preparation requires only 100 μL of plasma and consists of an extraction with a mixture of MeOH/acetone/H 2 O (45:45:10, v/v). Results: The method validation showed high sensitivity, an excellent accuracy and precision. Reference ranges were determined in healthy adult and pediatric

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Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients

Cited by 73 publications

References 21 publications

Newborn screening for lysosomal storage disorders

Newborn screening for lysosomal storage disorders

Types A and B Niemann-Pick disease

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

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