Publications by authors named "V Gragnaniello"
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its rarity and phenotypic heterogeneity. This study aims to evaluate the feasibility and disease incidence of newborn screening (NBS) for ASMD in Italy.
View Article and Find Full Text PDFThe European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Orphanet J Rare Dis
November 2024
Article Synopsis
- Clinical pathway recommendations (CPR) provide guidance on managing specific diagnoses, in this case, Pompe disease, a metabolic disorder caused by a deficiency in a specific enzyme.
- The CPR document was created by a working group from MetabERN, which focuses on metabolic diseases, and involved systematic literature searches and quality assessments based on established methodologies.
- This document aims to standardize care for Pompe disease patients by addressing various aspects including pathophysiology, diagnosis, treatment, and follow-up strategies for healthcare providers.
Background: Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum fasting guidelines, restricted long-chain triglyceride intake and supplementation with medium-chain triglyceride (MCT) oil (current standard of care), most patients experience recurrent decompensation episodes that can require hospitalisation. Herein, we analysed the effectiveness and safety of triheptanoin (a highly purified, synthetic medium odd-chain triglyceride) treatment in a cohort of Italian patients with LC-FAOD.
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- Phenylketonuria is a genetic disorder due to a lack of the phenylalanine hydroxylase enzyme, leading to high levels of phenylalanine in the blood, which can result in neurological issues and cognitive dysfunction if not treated with a low-phenylalanine diet.
- Pegvaliase is an FDA-approved treatment that helps lower phenylalanine levels in adults with the condition, even when they are not on a restricted diet.
- A study on three adults treated with pegvaliase showed notable improvements in brain MRI results, indicating reduced white matter damage, and enhanced cognitive performance, specifically on tasks sensitive to brain function, marking a significant milestone in treatment outcomes for this disorder.
Introduction: Infantile-onset Pompe disease (IOPD) is due to mutations in the gene leading to profound deficiency of the lysosomal enzyme α-1,4-glucosidase. The disease is characterized by severe hypotonia, hypertrophic cardiomyopathy, macroglossia, and liver enlargement with onset in the first months of life. In the late-onset form (LOPD), muscle signs predominate with a clinical picture resembling muscle dystrophies.
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