A5064861516- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Vitamin C and Antioxidants Research
- Calcium signaling and nucleotide metabolism
- Biochemical and Molecular Research
- Liver Disease Diagnosis and Treatment
- Genomics and Rare Diseases
- Digestive system and related health
- Diet, Metabolism, and Disease
- Amino Acid Enzymes and Metabolism
- Metabolomics and Mass Spectrometry Studies
- Biochemical Acid Research Studies
- 3D Printing in Biomedical Research
- Pharmacogenetics and Drug Metabolism
- Therapeutic Uses of Natural Elements
- Congenital gastrointestinal and neural anomalies
- Mobile Health and mHealth Applications
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
Centre for Biomedical Network Research on Rare Diseases
2019-2025
Instituto de Salud Carlos III
2020-2025
Complejo Hospitalario Universitario de Santiago
2020-2025
Instituto de Investigación Sanitaria de Santiago
2016-2024
Universidade de Santiago de Compostela
2017-2024
Centro de Investigación Biomédica en Red
2019-2024
University of Udine
2024
Instituto de Investigación de Enfermedades Raras
2024
Weatherford College
2023
Hospital Terrassa
2015
Rare diseases are infrequent, but together they affect up to 6–10 % of the world's population, mainly children. Patients require precise doses and strict adherence avoid metabolic or cardiac failure in some cases, which cannot be addressed a reliable way using pharmaceutical compounding. 3D printing (3DP) is disruptive technology that allows real-time personalization dose modulation dosage form adapt medicine therapeutic needs each patient. printed chewable medicines containing amino acids...
Mucolipidosis type II is a very rare lysosomal disease affecting the UDP-GlcNAc N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes synthesis of targeting signal mannose 6-phosphate in acid hydrolases. Its deficiency hinders arrival enzymes to lysosome, diminishing multiple degradations components that cells need perform. Due low prevalence this condition, available information scarce. This article aims deepen understanding disease; clinical, biochemical, and proteomic data are...
Background/Objectives: The present study updates the Spanish registry of patients with urea cycle disorders (UCD), originally established in 2013, to provide comprehensive epidemiological data and evaluate impact therapeutic strategies newborn screening (NBS) on clinical outcomes. Methods: This retrospective, multicenter focuses 255 UCD patients. It includes all living deceased cases up February 2024, analyzing demographic, clinical, biochemical variables. Results: incidence Spain over past...
In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented low-protein foods and Phe-free amino acid mixture favors dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized this setting. The objective of the present study was to analyze carbohydrate metabolism hyperphenylalaninemia. We conducted multicenter cross-sectional investigate biochemical markers basal postprandial PKU according age, Phe tolerance, waist...
Abstract CAD is a large, 2225 amino acid multienzymatic protein required for de novo pyrimidine biosynthesis. Pathological variants cause developmental and epileptic encephalopathy which highly responsive to uridine supplements. deficiency difficult diagnose because symptoms are nonspecific, there no biomarker, the has over 1000 known variants. To improve diagnosis, we assessed pathogenicity of 20 unreported missense using growth complementation assay that identified 11 pathogenic in seven...
The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined Phe-free L-amino acid supplements and low foods. This PKU diet seems to reduce atherogenesis confer protection against cardiovascular diseases but the results from few published studies have been inconclusive. aim our study was evaluate relationship between lipid profile several treatment-related risk factors hyperphenylalaninaemia (HPA) order optimize their...
Optimal prognostic markers evaluating early neuroprotective interventions in neonatal hypoxic-ischemic encephalopathy (HIE) are lacking. This study was designed to assess the value of acylcarnitines HIE.An observational cohort conducted over 10 years 67 HIE. Variables analyzed included sex, blood cord pH, Apgar score, hypothermia treatment (yes/no), neuron-specific enolase (NSE) levels, and clinical outcome (neurological examination, brain magnetic resonance imaging [MRI],...
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in mitochondrial fatty acid oxidation pathway, resulting significant morbidity and mortality undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but risk of complication remains some The aim this study was to evaluate relationship between genotype, biochemical parameters clinical data at diagnosis during follow-up, order optimize monitoring these We carried out a...
Abstract Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted retrospective observational multicentric study Spanish HT1 patients treated NTBC to assess clinical biochemical long-term evolution. evaluated 52 patients, 7 adults 45 children, considering: age at diagnosis, diagnosis by symptoms, or newborn screening (NBS); phenotype (acute/subacute/chronic), mutational analysis; symptoms...
While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome. Poor treatment well documented among chronic diseases, but data from HT1 are scarce. This study evaluated in both directly, by quantifying blood levels nitisinone (NTBC) metabolic biomarkers [tyrosine (Tyr), phenylalanine (Phe), succinylacetone]; indirectly, analyzing NTBC...
Strict adherence to a diet is an essential pillar of long-term treatment for many inborn errors metabolism (IEMs). Tools that educate patients about dietary management can positively condition and prevent morbidity. We designed free online calculation program (Odimet®, version 2.1.) IEMs in 2008, updated 2022, provides detailed information on the content amino acids, protein, lipids, carbohydrates, vitamins minerals >3000 food products, including specific medical foods IEM. analyzed...
Abstract Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aimed evaluate effective pharmacokinetics pharmacodynamics when administered severe WD 5 twice weekly, an intensive regimen which not assessed trials. Methods recruited 3 receiving measured LAL...
Abstract Large for gestational age (LGA) newborns have an increased risk of obesity, insulin resistance, and metabolic syndrome. Acylcarnitine profiles in obese children adults are characterized by levels C3, C5, certain medium-chain (C12) long-chain (C14:1 C16) acylcarnitines. C2 is also insulin-resistant states. In this 1-year observational study 2514 (246 LGA newborns, 250 small (GA) 2018 appropriate GA newborns), we analyzed compared postnatal acylcarnitine with described individuals....
Background and objectives: Glycerol phenylbutyrate (GPB) has demonstrated safety efficacy in patients with urea cycle disorders (UCDs) by means of its clinical trial program, but there are limited data practice. In order to analyze the GPB practice, here we present a national Spanish experience after direct switching from another nitrogen scavenger GPB. Methods: This observational, retrospective, multicenter study was performed 48 UCD (age 11.7 ± 8.2 years) 13 centers nine regions. Clinical,...
Interpretation of alkaline phosphatase (ALP) activity is essential for the diagnosis certain diseases. ALP changes during life and may vary between different populations.
The protein encoded by COQ7 is required for CoQ
To verify whether small-for-gestational-age (SGA) preterm newborns represent a special risk group for carnitine deficiency. Secondary outcome includes assessment of longitudinal differences total (TC), free (FC) and acylcarnitines between SGA appropriate-for-gestational-age (AGA).A retrospective study to evaluate profile on 144 very-low-birth weight (VLBW), classified as AGA (n = 73) 71), was performed by tandem mass spectrometry, during their first 5 weeks life. Carnitine deficiency defined...
Children with inborn errors of intermediary metabolism (IEiM) must follow special diets that restrict their intake essential nutrients and may compromise normal growth development. We evaluated body composition, bone mineral density, physical activity, food in IEiM patients undergoing dietary treatment. (n = 99) aged 5–19 years healthy age- sex-matched controls 98) were recruited underwent dual-energy X-ray absorptiometry to evaluate anthropometric characteristics composition. Data on...
Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric adult patients with suspected of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis next-generation sequencing. The rate increased exponentially the addition genes to successive versions INMD panel, from 31% for first iteration (278 genes) 40% last (324 genes). global mean diagnostic was 36%...
Hereditary fructose intolerance (HFI) is a rare inborn error of metabolism caused by the deficiency aldolase B. Since treatment consists fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk presenting vitamin deficiencies. Although there no published data on status these vitamins in HFI patients, supplementation with C folic acid common. Therefore, aim this study was to assess folate practices nationwide cohort patients.Vitamin dietary intake, circulating levels...
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present abnormal transferrin (Tf) glycosylation pattern due to inhibition mannose-6-phosphate isomerase fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow prompt detection HFI. The CDT...