Cristóbal Colón

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening

Judit García‐Villoria, Rosa María López-Galera, Carmen Delgado‐Pecellín, Dolores Rausell et autres

Newborn screening (NBS) is a cornerstone of preventive medicine, enabling early diagnosis and treatment of severe congenital disorders. In Spain, despite the existence of a Basic Common Portfolio, the absence of a harmonized national panel has led to significant inter-regional variability, affecting …

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A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies

Rebeca Estevez Barcia, Cristóbal Colón, Á. Hermida Ameijeiras, Laura López-Valverde et autres

). The resulting deficiency in GAA, a lysosomal enzyme, leads to the pathological accumulation of glycogen, primarily in cardiac and skeletal muscles. PD presents as a clinical continuum spanning two major phenotypes: infantile-onset Pompe disease (IOPD), the most severe form, typically characterized …

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Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease

María Domínguez-Ruiz, Juan Luis Chico‐García, Laura López‐Marín, Sinziana Stanescu et autres

Background/Objectives: Krabbe disease (KD) is a hereditary lysosomal disorder whose hallmark is progressive demyelination, with variable involvement of the central nervous system. It is caused by pathogenic variants in the GALC gene that disrupt the function of its gene product, the lysosomal …

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Add-On Treatment With Zilebesiran for Inadequately Controlled Hypertension

Akshay S. Desai, Adam Karns, Jolita Badarienė, Ahmad Aswad et autres

Importance: In prior monotherapy studies of patients with hypertension, single subcutaneous doses of zilebesiran, an investigational RNA interference therapeutic, reduced serum angiotensinogen levels and systolic blood pressure (SBP) at 3 and 6 months. Objective: To evaluate the efficacy and safety of zilebesiran …

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Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing

Laura López-Valverde, M.E. Vázquez-Mosquera, Cristóbal Colón, Jose Victor Álvarez et autres

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A. This defect leads to the progressive accumulation of glycosphingolipids, resulting in kidney, heart, and nervous system damage, which contributes to significant morbidity and …

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Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II

Einés Monteagudo-Vilavedra, Daniel Rodrigues, Susana B. Bravo, Carmen Pena et autres

Mucolipidosis type II is a very rare lysosomal disease affecting the UDP-GlcNAc N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the targeting signal mannose 6-phosphate in lysosomal acid hydrolases. Its deficiency hinders the arrival of lysosomal enzymes to the lysosome, diminishing the multiple …

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Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)

Miloud Hammoud, María Domínguez-Ruiz, Imane Assiri, Daniel Rodrigues et autres

(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called “diagnostic odyssey”, due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and …

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

María José de Castro, Simon Jones, Javier de las Heras, Paula Sánchez‐Pintos et autres

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 of two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial …

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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

María L. Couce, María-Dolores Bóveda, Daisy Castiñeiras, María-Eugenia Vázquez-Mosquera et autres

BACKGROUND: There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass spectrometry (July 2000). This …

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Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions

Jose Victor Álvarez, Susana B. Bravo, María del Pilar Chantada‐Vázquez, Carmen Pena et autres

Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly musculoskeletal manifestations. The mechanisms underlying bone involvement in humans are typically …

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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

Laura López-Valverde, M.E. Vázquez-Mosquera, Cristóbal Colón, Susana B. Bravo et autres

Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient α-galactosidase A (α-GalA) activity. Early diagnosis and the prediction of disease course are complicated by the clinical heterogeneity of FD, as well as by the frequently inconclusive biochemical and …

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Characterization of plasma proteomic profile in Fabry disease

Laura López‐López, M. E. Vazquez Mosquera, Maria Rosario Sanchez Martinez, Manuel López Mendoza et autres