Publications by authors named "A Tylki-Szymanska"
Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal disease caused by defective activation of cellular sulfatases comprising clinical features of mucopolysaccharidoses, sphingolipidoses, and other sulfatase deficiencies. We present a case of an infant with feeding difficulties related to autism spectrum disorder (ASD) who was diagnosed at 10 months of age with MSD by next-generation sequencing (NGS). Biochemical results obtained in dried blood spot (DBS) samples were inconsistent and not suggesting MSD in the light of identified pathogenic SUMF1 variants.
View Article and Find Full Text PDFGaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded by gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously and proved to be a sensitive biomarker, distinguishing patients with GD from carriers and healthy subjects. It was shown that its level corresponds with β-glucocerebrosidase activity, thus it remains unknown as to why carriers have slightly higher lyso-Gb1 level than healthy population.
View Article and Find Full Text PDFBackground: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease (LSD) associated with biallelic pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene.
Objectives: The aim of this study was to provide the 2024 update on chronic visceral and neurovisceral ASMD diagnosed in the infancy/childhood in Polish patients.
Material And Methods: All the patients diagnosed in the pediatric age (0-18 years) with ASMD, both chronic neurovisceral and visceral type, and then systematically followed up, were enrolled into the study.
Article Synopsis
- Enzyme replacement therapy (ERT) with velmanase alfa demonstrated effectiveness and safety for up to 12 years in patients with alpha-mannosidosis based on a pooled analysis from two multicenter trials.
- In pediatric patients, improvements in six-minute walk test (6MWT) and stair climb test (3MSCT) were observed, while adult patients showed stabilization or slight decline in performance.
- The treatment resulted in sustained clearance of serum oligosaccharides and increased serum immunoglobulin G (IgG) levels, with most adverse events being mild to moderate in severity, indicating that velmanase alfa is generally well-tolerated.
Purpose: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS) registry.
Methods: HOS data for male patients (n = 650) aged ≥5 years at latest cognitive assessment with available genetic data were analyzed. Predefined genotype categories were used to classify IDS variants and report phenotypic characteristics by genotype.