Chiara Cazzorla

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Classical galactosemia is an autosomal recessive inborn error of metabolism due to mutations of the GALT gene leading to toxic accumulation of galactose and derived metabolites. With the benefit of early diagnosis by neonatal screening and early therapy, the acute presentation of classical galactosemia can be prevented. However, despite early diagnosis and(More)
PURPOSE To evaluate the effect of agalsidase beta on longitudinal health-related quality of life in patients with Fabry disease. METHODS The SF-36® Health Survey was used to measure health-related quality of life in Fabry Registry patients. Seventy-one men and 59 women who were treated with agalsidase beta (median dose: 1.0 mg/kg/² weeks) and who had(More)
BACKGROUND Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality of Life (QoL). This observational study evaluated QoL in a cohort of PKU patients, using updated and detailed instruments. METHODS 22 patients with mild PKU respondent to BH4 and 21(More)
Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid-alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen. The classic infantile-onset form is characterised by severe hypotonia and cardiomyopathy. Untreated patients usually die within the first year of life due to cardiorespiratory failure. Several studies involving(More)
BACKGROUND The effect of long-term N-carbamylglutamate (NCG) treatment on the rate and severity of decompensations due to propionic aciduria (PA) and methylmalonic aciduria (MMA) is unknown. This paper presents clinical experience from a single-centre cohort of patients with PA and MMA who received continuous long-term treatment with NCG. METHODS The(More)
The coexistence of two diseases associated with different metabolic disorders is a very rare event. Some associations, although sporadic, can be particularly challenging both in terms of diagnostic and therapeutic management and in terms of theoretical perspective. Here, we report a child affected by type 1 diabetes mellitus (T1DM) and glutaric aciduria(More)
BACKGROUND As advances in neonatal and pediatric care for patients affected by inherited metabolic diseases (IMD) improve their outcome and allow for better survival rates, there is a growing interest in the quality of life (QoL) of patients reaching adulthood. In order to address this subject we designed a study to evaluate the QoL of a group of adult IMD(More)
We report the first case of late-onset isolated sulfite oxidase deficiency (ISOD) presenting with a stroke-like episode. Clinical, biochemical and neuroradiological features at diagnosis and during follow-up after dietary treatment intervention are described. Furthermore, pathogenic mechanisms possibly leading to stroke in ISOD are discussed.
Newborn Screening (NBS) is a public health program aimed at identifying treatable conditions in pre-symptomatic newborns to avoid premature mortality, morbidity and disability. The advent of tandem mass – spectrometry (MS/MS) has enabled the interrogation of multiple disorders using a single, multianalyte assay changing the origin scenario of one screening,(More)
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