Publications by authors named "Sonia Pajares"

There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum.

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Article Synopsis
  • - The laboratory conducted a review of the new-born screening (NBS) process to identify subjective steps that could compromise patient outcomes, focusing particularly on classifying dried blood spots (DBS) and assigning haemoglobin patterns.
  • - Inter-rater studies were implemented using dried blood spots to evaluate the reliability of these subjective activities, utilizing Krippendorff's alpha test for assessment, and addressing inconsistencies in criteria used for classification and reporting.
  • - Results showed initial inadequacy in reliability, which improved after enhanced training and reaching a consensus on classification criteria, demonstrating the importance of inter-rater reliability in maintaining NBS quality.
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Background: Alteration of vitamin B metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical. Most of the neonatal cases with acquired vitamin B deficiency have been detected by clinical symptoms and only few of them trough NBS programs.

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The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life.

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Niemann-Pick type C (NPC) is a progressive neurodegenerative disease characterized by lysosomal/endosomal accumulation of unesterified cholesterol and glycolipids. Recent studies have shown that plasma cholestane-3β,5α,6β-triol (CT) and 7-ketocholesterol (7-KC) could be potential biomarkers for the diagnosis of NPC patients. We aimed to know the sensitivity and specificity of these biomarkers for the diagnosis of NPC compared with other diseases that can potentially lead to oxysterol alterations.

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Recent investigations have suggested creatine (Cr) as an additional biomarker of mitochondrial diseases. With the aim of corroborating previous findings, we have studied plasma Cr in a cohort of 33 patients with different mitochondrial diseases. Cr was clearly increased in 9 out of 33 patients.

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Mucopolysaccharidosis type IVA (Morquio A) is an inherited metabolic disease with autosomal recessive inheritance. The pathology is due to a deficient activity of N-acetylgalactosamine-6-sulfate-sulfatase, which is involved in the degradation of keratan sulfate and chondroitin-6-sulfate. To date more than 150 mutations have been described in the GALNS gene in different populations.

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