Elena Martín‐Hernández
A5080443100- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Folate and B Vitamins Research
- Glycogen Storage Diseases and Myoclonus
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neonatal Health and Biochemistry
- Biochemical and Molecular Research
- ATP Synthase and ATPases Research
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Clinical Nutrition and Gastroenterology
- Carbohydrate Chemistry and Synthesis
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Trypanosoma species research and implications
- Glycosylation and Glycoproteins Research
- Advanced biosensing and bioanalysis techniques
- Metabolism, Diabetes, and Cancer
- RNA Research and Splicing
- Cellular transport and secretion
- RNA and protein synthesis mechanisms
Centre for Biomedical Network Research on Rare Diseases
2010-2025
Hospital Universitario 12 De Octubre
2015-2025
Research Institute Hospital 12 de Octubre
2008-2022
Instituto de Investigación de Enfermedades Raras
2013-2022
Centro de Investigación Biomédica en Red
2017-2022
Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas
2022
Instituto de Salud Carlos III
2010-2019
Universidad Complutense de Madrid
2016-2018
Hospital Sant Joan de Déu Barcelona
2017
Universitat de Barcelona
2017
Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in childhood progressing relentlessly. We investigated safety efficacy deoxynucleoside monophosphate therapies.We administered monophosphates to 16 TK2-deficient patients under compassionate use program.In 5 with early onset severe disease, survival...
Abstract We present the results of our experience in diagnosis inborn errors metabolism (IEM) since Expanded Newborn Screening was implemented Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines quantitated by mass spectrometry (MS)/MS. Newborns with alterations referred to clinical centers for follow‐up. Biochemical molecular genetic studies confirmation a disease performed. In period 2011 2019, 592 822 children screened: 902 them abnormal results. An...
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) is caused by biallelic variants in SERAC1 . Methods This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results Sixty‐seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age 9 years). A total 41 different identified,...
Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion folinic acid therapy might be useful in treatment of KSS patients. Our aim was to assess clinical neuroimaging outcomes patients receiving therapy. Patients: We recruited eight diagnoses KSS. Four cases were treated at 12 de Octubre Hospital, two Sant Joan Déu Hospital. Two refused participate protocol. Methods: Clinical,...
Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose this study is describe characteristics patients with Spain.Observational, cross-sectional multicenter study. Clinical, biochemical genetic data were collected from UCDs, treated metabolic diseases centers Spain between February 2012 2013, covering entire Spanish population. Heterozygous mothers OTC deficiency only included if they on due being symptomatic or having...
ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype mutations.An observational conducted at multiple diagnostic centres. Clinical data is presented from 9 unreported 2 previously reported mutations. We compare their features 3 additional that medical literature.Eleven biallelic were identified, a mean age 9.4 years (range 2.5-28 years). All (100%)...
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disease in the mitochondrial transport of long-chain fatty acids. Despite early diagnosis and treatment, still has high mortality rate.Clinical symptoms, long-term follow-up, biochemical molecular results four cases are described compared with reviewed literature data 55 cases.Two neonatal onset, carrying homozygosity novel variant sequences p.Gly20Asp (c.59G>A) p.Arg179Gly (c.536A>G), died during an...
The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis attachment. They affect multiple organ/systems, but non‐specific symptoms render the diagnosis different CDG very challenging. Phosphomannomutase 2 (PMM2)‐CDG is most common CDG, advances genetic analysis have shown others to occur more commonly than previously thought. present work reports clinical mutational spectrum 25 non‐PMM2 patients. were hypotonia (80%), motor or psychomotor...
The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of disease, several countries have screening programs. These actions promoted early diagnosis and avoided many complications in pediatric patients. In Spain ERT been available since 1993 386 patients included Spanish Registry Disease (SpRGD). aim this study is to analyze impact on characteristics at time initial To A review data SpRGD from patients' diagnosed before 18 years old was...
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...
Abstract Background HUPRA syndrome is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis. This was previously described three patients with homozygous mutation c.1169A > G (p.D390G) SARS2 , encoding the seryl-tRNA synthetase. Case presentation Here we report clinical genetic findings girl her brother. Both were clinically diagnosed syndrome. Analysis of pedigree identified new c.1205G A (p.R402H) gene. very...
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...
Abstract Striated muscle needs to maintain cellular homeostasis in adaptation increases physiological and metabolic demands. Failure do so can result rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals six families from different ethnic backgrounds biallelic variants MLIP, which encodes the muscular lamin A/C-interacting protein, MLIP. Patients...
ABSTRACT The current standard diet for long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) in the first months of life includes a special formula low triglycerides (LCT) and enriched medium‐chain (MCT). It involves interruption breastfeeding, withholding its nutritional nonnutritional benefits. We describe clinical case late preterm with 36 weeks gestational age diagnosed LCHADD through newborn screening (NBS) who developed necrotizing enterocolitis (NEC) sepsis due to Escherichia...