A5018985059- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Folate and B Vitamins Research
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Diabetes and associated disorders
- Amino Acid Enzymes and Metabolism
- Biomedical Research and Pathophysiology
- Child Nutrition and Feeding Issues
- Cystic Fibrosis Research Advances
- Erythrocyte Function and Pathophysiology
- Infant Nutrition and Health
- Autophagy in Disease and Therapy
- Antimicrobial Resistance in Staphylococcus
- Ultrasound Imaging and Elastography
- Neurological and metabolic disorders
- Nuclear Structure and Function
- Calcium signaling and nucleotide metabolism
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
University of Padua
2015-2025
Azienda Ospedaliera di Padova
2023
Humanitas University
2019-2023
Santa Maria Nuova Hospital
2018
Ospedale San Bassiano
2012
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey characterize dietary habits Italian adult PKU patients and identify psychological factors influencing disease perception diet. Participants (
Newborn screening (NBS) for inborn errors of metabolism is one the most advanced tools secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn was introduced Italy between 2016 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total 1,586,578 infants born were screened January December 2020. For this survey, we collected data from 15 Italian laboratories, focusing on metabolic disorders identified by tandem mass...
The increasing availability of treatments and the importance early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns North Eastern Italy been screened four disorders-mucopolysaccharidosis type I Pompe, Fabry Gaucher diseases-using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.12%) collection second dried blood spot. Low activity was confirmed 62 (0.06%), who underwent confirmatory...
Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years NBS FD α-galactosidase A activity and globotriaosylsphingosine (lyso-Gb3) assays in dried blood spot through multiplexed MS/MS assay. Furthermore, we report our experience with long-term follow-up positive subjects. screened more than 170,000 newborns 22...
Pompe disease (PD) is a progressive neuromuscular disorder caused by lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy available, but early diagnosis newborn screening (NBS) essential for treatment and better outcomes, especially with more severe forms. We present results from 7 years of NBS PD the management infantile-onset (IOPD) late-onset (LOPD) patients, during which we sought candidate predictive parameters phenotype severity at baseline follow-up. used...
Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality Life (QoL). This observational study evaluated QoL in cohort PKU patients, using updated detailed instruments.22 patients with mild respondent to BH4 21 classical treated diet were recruited this study. Adult completed WHOQOL questionnaire-100 (WHOQOL-100) pediatric the Pediatric inventory (PedsQL(TM)). Psychiatric mood disorders...
In the last few decades, neonatal screening (NBS) has expanded to include lysosomal storage diseases, allowing for early identification of both symptomatic and asymptomatic cases. However, diagnosis late-onset disorders can cause parental stress affect family well-being, possibly leading overmedicalization. The impact a positive NBS Gaucher disease type 1 (GD1) have an important on psychological well-being psychosocial functioning. This study aims in parents newborns who had result program...
The aim of this study is to present a series case studies on the real-life use pegvaliase in Italy managing patients affected by phenylketonuria (PKU) and provide practical insight support healthcare professionals currently approaching facing novel enzyme substitution therapy. A panel 11 PKU experts from seven leading Italian treatment centers attended online virtual meetings with reviewing their clinical experiences based occurred cases. In selecting cases, specific consideration was given...
In the last two decades, development of high-throughput diagnostic methods and availability effective treatments have increased interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits challenges. We report our 8-year on about 250,000 neonates screened four diseases (Pompe disease, mucopolysaccharidosis type I, Fabry Gaucher disease), using enzyme activity assay by tandem mass spectrometry, biomarker...
The effect of long-term N-carbamylglutamate (NCG) treatment on the rate and severity decompensations due to propionic aciduria (PA) methylmalonic (MMA) is unknown. This paper presents clinical experience from a single-centre cohort patients with PA MMA who received continuous NCG.The oral NCG (initial dose: 50 mg/kg/day) was investigated in or were experiencing frequent progressive episodes metabolic decompensation, had pathological levels ammonia, referred Division Metabolic Diseases,...
Abstract Objectives Mucopolysaccharidosis type I (MPS I) was added to our expanded screening panel in 2015. Since then, 127,869 newborns were screened by measuring α-L-iduronidase (IDUA) enzyme activity with liquid chromatography tandem mass spectrometry (LC-MS/MS). High false positives due frequent pseudodeficiency alleles prompted us develop a second-tier test quantify glycosaminoglycan (GAG) levels dried blood spot (DBS). Methods Heparan-sulfate (HS) and dermatan-sulfate (DS) measured...
The gold standard treatment for phenylketonuria (PKU) is a lifelong low-phenylalanine (Phe) diet supplemented with Phe-free protein substitutes. Adherence to therapy becomes difficult after childhood. Supplementing large neutral amino acids (LNAAs) has been proposed as an alternative medication substitutes (i.e., acid mixtures). aim of this study was evaluate adherence and quality life (QoL) in cohort sub-optimally controlled adult PKU patients treated new LNAA formulation. Twelve were...
Abstract Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of amino acid metabolism that results in impaired synthesis adenosylcobalamin, a cofactor methylmalonyl‐CoA mutase. It presents with episodes coma, vomiting, hypotonia, metabolic acidosis, and hyperammonemia. End‐stage kidney disease long‐term complication. Treatments include vitamin B12 supplementation, L‐carnitine, low‐protein diet. Liver, kidney, or combined liver‐kidney transplantations are...
Abstract Phenylketonuria, the most common inherited metabolic disease, results from a deficiency of phenylalanine hydroxylase enzyme activity that causes high blood levels. Most adults do not adhere to gold standard therapy: lifelong treatment with low‐phenylalanine diet. Elevated and fluctuating levels in untreated can cause white matter abnormalities, neurological symptoms, cognitive dysfunction (executive function). Pegvaliase, derivative ammonia‐lyase enzyme, metabolizes trans‐cinnamic...