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Pediatric Interventions in a Sanfilippo Syndrome Patient Under General Anesthesia: A Case Report.
Case Rep Dent
January 2025
Faculty of Dental Sciences, Beirut Arab University, Beirut, Lebanon.
Mucopolysaccharidosis (MPS) Type III (MPS III) or Sanfilippo syndrome is a rare autosomal recessive inherited metabolic disorder. This disorder is responsible for lysosomal storage disorder at the cellular aspect. Due to lysosomal enzyme perturbance leading to the alteration of macromolecule metabolisms, this cellular perturbance causes multiple severe systemic and mental outcomes.
View Article and Find Full Text PDFComplementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.
J Appl Genet
January 2025
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
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 PDFDiffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.
View Article and Find Full Text PDFEarly investigation of sensorineural hearing loss enables diagnosis of rare metabolic diseases, such as mucopolysaccharidosis type III.
BMJ Case Rep
January 2025
Audiovestibular Medicine, St George's Hospital, London, UK.
A toddler presented to audiovestibular medicine with mild bilateral, sensorineural hearing loss identified via the Newborn Hearing Screening Programme. This report focuses on the early clinical assessment and aetiological investigation which prompted testing for metabolic disease and highlights the parents' perspective. Early investigation led to a relatively early diagnosis of mucopolysaccharidosis (MPS) type IIIA: Sanfilippo disease which enabled the family to access a novel treatment option which otherwise would not have been possible.
View Article and Find Full Text PDFPrenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
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