Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

Blümlein, Ulrike; Mengel, Eugen; Amraoui, Yasmina

doi:10.1016/j.ymgmr.2022.100900

Cited by 1 publication

(1 citation statement)

References 17 publications

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“…Patients carrying the Q294K variant have an increased risk of false negative diagnosis. Pseudo-normal results are obtained from ASM assays employing fluorometric substrates, leading to substantial under-diagnosis in patients with the Q294K mutation [ 69 ]. Therefore, best practice guidelines recommend the use of the tandem mass spectrometry ASM assay, which provides a reliable diagnosis in Q294K-dependent cases.…”

Section: Lysosomal Storage Diseasesmentioning

confidence: 99%

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

Bremova-Ertl,

Hofmann,

Stucki

et al. 2023

Cells

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A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ataxias summarized by disease, highlighting novel clinical trials and emerging therapies with a particular emphasis on first-in-human gene therapies. We present disease-specific treatments if they exist and review the current evidence for symptomatic treatments of these highly heterogeneous diseases (where cerebellar ataxia is part of their phenotype) that aim to improve the disease burden and enhance quality of life. In general, a multimodal and holistic approach to the treatment of cerebellar ataxia, irrespective of etiology, is necessary to offer the best medical care. Physical therapy and speech and occupational therapy are obligatory. Genetic counseling is essential for making informed decisions about family planning.

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Section: Lysosomal Storage Diseasesmentioning

confidence: 99%