Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

Chuang, Wei-Lien; Pacheco, Josh; Zhang, X. Kate; Martin, Michael J.; Biski, Chad K.; Keutzer, Joan; Wenger, David A.; Casini, Michèle; Orsini, Joseph J.

doi:10.1016/j.cca.2013.01.017

Cited by 55 publications

(61 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recent literature have demonstrated that LysoSLs may be useful biomarkers for the identification of several sphingolipidoses [4,6]. So far, different LC-MS/ MS methods have been reported for analysis of these compounds (in plasma, urine or dried blood spot [DBS]) [7,10,12,14]. However, until now these methods allow only the determination of a single LysoSL (or analogs) for diagnosis of a single specific disease.…”

Section: Discussionmentioning

confidence: 99%

“…solid phase extraction). The challenging separation of GalSph from its isomer GlcSph was not always mentioned/assessed in plasma and only two reported methods focus on this separation [10,12].…”

Section: Discussionmentioning

confidence: 99%

“…Increased levels of plasma and urine globotriaosylsphingosine (LysoGb3) are seen in males with FD [6,7] and in heterozygote females [8]. 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].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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)

View full text Add to dashboard Cite

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

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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)

View full text Add to dashboard Cite

show abstract

“…Identification and use of other biochemical markers of disease such as psychosine may eventually aid in establishing a diagnosis and/or risk assessment. 39,40 Health-care professionals must be highly skilled in communicating information about KD prognosis and benefits, risks, and long-term outcomes associated with transplantation so that families are empowered to make the difficult decision of whether their child should undergo transplantation.…”

Section: Original Research Articlementioning

confidence: 99%

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Orsini

Kay

Saavedra-Matiz

et al. 2016

Genetics in Medicine

Self Cite

125

View full text Add to dashboard Cite

“…The inability to predict KD phenotype from enzyme activity and genotype led to the development of another biomarker on dried blood spots [44,45]. The compound psychosine is thought to be a substrate of GALC, and babies with infantile KD have been shown to have very elevated psychosine concentrations in their initial dried blood spot specimens.…”

Section: Psychosine Testingmentioning

confidence: 99%

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

Orsini

Casini

2017

IJNS

Self Cite

View full text Add to dashboard Cite

Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease. Four underwent transplant, two are surviving with moderate to severe handicaps, and two died from transplant-related complications. An additional forty-six asymptomatic infants were found to be at moderate or high risk for disease. Screening for KD is both analytically and medically challenging; since screening for KD possesses both of these challenges, and many more, the lessons learned thus far could be used to predict the challenges that may be faced when screening for other lysosomal storage disorders (LSDs). This paper briefly reviews reports of NBS for LSDs from varied world programs. The challenges encountered in screening for KD in NY will be highlighted, and this experience, combined with hindsight, will inform what may be expected in the future as screening for LSDs expands.

show abstract

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

Cited by 55 publications

References 14 publications

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

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

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

Contact Info

Product

Resources

About