Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

Abstract

PSY measurement in DBS could serve as a 2nd tier assay in NBS for KD, simplify and reduce the cost of follow up protocols, help determine disease progression, and be used to monitor KD patients following hematopoietic stem cell transplantation. However, additional chronological measurements of PSY in KD patients are required to confirm these possibilities.

Precision newborn screening for lysosomal disorders

“…Two of the biochemical methods used for secondtier tests (Krabbe disease: psychosine concentration, MPS I: dermatan sulfate and heparan sulfate concentrations) have been described previously. 21,22 A second-tier test for the evaluation of low GAA activity was developed during this study and has been described separately. 23 It is based on a 12-plex panel inclusive of creatine and creatinine, utilized to calculate the (creatine/creatinine)/GAA ratio that is incorporated in expanded CLIR tools.…”

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

“…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.…”

Should states adopt newborn screening for early infantile Krabbe disease?

“…Turgeon et al estimate that 5-15% of patients with abnormal screens will undergo extensive studies, including brain magnetic resonance imaging scans, lumbar puncture to obtain cerebrospinal fluid, and painful nerve sequencing conduction velocity studies, as well as brain stem auditory-evoked potentials and visualevoked potentials. 1 2 provide a significant amount of new information on the characteristics of enzymatic testing. They demonstrate that the positive predictive value of an abnormal enzymatic test on dried blood spot screening is 1.4%.…”

“…1 The article in this issue of Genetics in Medicine provides an important update on the technical success of the largest cohort of individuals undergoing such mandated screening. 2 As such, it is a valuable source of information on the real-world effects of such deployment and contributes significant new data compared with that reviewed just over 6 years ago by what is now known as the US Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.…”