A5079768919- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Lysosomal Storage Disorders Research
- Diet and metabolism studies
- Child Nutrition and Feeding Issues
- Pharmacological Effects and Toxicity Studies
- Childhood Cancer Survivors' Quality of Life
- Neonatal Health and Biochemistry
- Adolescent and Pediatric Healthcare
- Peroxisome Proliferator-Activated Receptors
- Genetics and Neurodevelopmental Disorders
- Amino Acid Enzymes and Metabolism
- Genomics and Rare Diseases
- Sexual Differentiation and Disorders
- Carbohydrate Chemistry and Synthesis
- Neuroscience of respiration and sleep
- Clinical Nutrition and Gastroenterology
- Eating Disorders and Behaviors
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Infant Health and Development
- Nausea and vomiting management
- Pharmaceutical studies and practices
- Congenital Heart Disease Studies
Centre Hospitalier Régional et Universitaire de Nancy
2015-2024
Inserm
1990-2024
Université de Lorraine
2012-2024
Centre Hospitalier Universitaire de Tours
2023
Nutrition-Génétique et Exposition aux Risques Environnementaux
2020
Stress Environnementaux et Biosurveillance des Milieux Aquatiques
2020
Hôpital d'Enfants
2007-2019
National Center on Birth Defects and Developmental Disabilities
2019
Société Française de Cardiologie
2014
Assistance Publique – Hôpitaux de Paris
2013
The current standard of care for diagnosis severe intellectual disability ( ID ) and epileptic encephalopathy EE results in a diagnostic yield ∼50%. Affected individuals nonetheless undergo multiple clinical evaluations low‐yield laboratory tests often referred to as ‘diagnostic odyssey’. This study was aimed at assessing the utility whole‐exome sequencing WES with undiagnosed forms , feasibility its implementation routine practice by small regional genetic center. We performed cohort 43...
Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused by either mutations in the mtDNA or nuclear genes coding for proteins. The underlying pathomechanisms affect numerous pathways involved physiology. By whole-exome and candidate gene sequencing, we identified 11 individuals 9 families carrying compound heterozygous homozygous GTPBP3, encoding...
Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for treatment patients with BH4-responsive phenylketonuria (PKU). The purpose this study was to assess genotypes and data on long-term effects BH4/sapropterin metabolic control patient-related outcomes in 6 large European countries.A questionnaire developed phenotype, genotype, blood phenylalanine (Phe) levels, Phe tolerance, quality life, mood changes, adherence diet PKU from 16 medical...
Mucopolysaccharidosis II (MPS II) is associated with a broad spectrum of chronic and progressive, life-limiting symptoms. Idursulfase approved for MPS enzyme replacement therapy (ERT) in over 50 countries. This retrospective study evaluated the burden, organization clinical care, effects idursulfase treatment on disease France. patients who had received ERT French healthcare system were enrolled. In addition to clinician patient questionnaires, Clinical Global Impression-Improvement (CGI-I);...
The efficacy and safety of intra-venous (i.v.) sodium benzoate for treating acute episodes hyperammonemia in urea cycle enzyme disorders (UCD) is well known. However, published data do not provide a clear picture the benefits risks this drug. We report retrospective multicentre study on use i.v. patients treated UCD between 2000 2010 6 French reference centres metabolic diseases. Sixty-one with UCDs - 22 ornithine transcarbamylase (20 confirmed, 2 suspected), 18 arginino-succinate...
Objectives Rhabdomyolysis and myalgia are common conditions, mutation in the ryanodine receptor 1 gene (RYR1) is suggested to be a cause. Due large size of RYR1, however, sequencing has not been widely accessible before recent advent next-generation technology limited phenotypic descriptions therefore available. Material & Methods We present medical history, clinical ancillary findings patients with RYR1 mutations rhabdomyolysis identified Denmark, France The Netherlands. Results Twenty-two...
A 16-year-old boy presented with progressive dysarthria and gait behavior disorders. The diagnosis of Wilson disease was made, based on Kayser-Fleischer rings, hypocupremia, hypoceruloplasminemia, increased 24-hour urinary copper, confirmed by molecular analysis (homozygous state, p.[Glu1382*]; [Glu1382*]). Brain MRI demonstrated diffuse bilateral cortical subcortical abnormalities (figure). Chelator therapy (D-penicillamine) produced partial improvement, although the patient developed...
Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) MPS IV A. Here we describe evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT 21 next 30 months. Applying standard protocol on this very young appeared to reduce his urinary excretion glycosaminoglycans (GAGs); improvements both 6 minute-walk test (6MWT) stair climb test, however, no different than those reported nature history study....
Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy However, PAH a highly polymorphic and it difficult to identify BH4-responsive genotypes. We seek here improve prediction of BH4-responsiveness through comparison genotypes, BH4-loading test, predictions responsiveness according literature types locations mutations. A total 364 French patients among which, 9 % had mild hyperphenylalaninemia,...
Adult onset urea cycle disorders (UCD) may present with psychiatric symptoms, occasionally as the initial presentation. We aimed to describe characteristics of patients presenting a adult-onset UCDs, discuss which signs could suggest this diagnosis in such situation, and determine tests should be conducted. A survey symptoms occurring teenagers or adults UCD was conducted 2010 among clinicians involved French society for study inborn errors metabolism (SFEIM). Fourteen from 14 57 years old...
Abstract Alpha‐mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It characterized by multi‐systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum wide, from severe lethal to milder phenotype that usually progresses slowly. AM caused deficiency of alpha‐mannosidase. A diagnosis can be established measuring the activity alpha‐mannosidase in...
Abstract Low bone mineral density (BMD) as a risk factor for fractures has been long‐standing concern in phenylketonuria (PKU). It is hypothesised that the disease itself or dietary treatment might lead to low BMD. Previous studies show conflicting results of BMD PKU due differences age, techniques assess and criteria used. To prevalence define possible factors large number adult, early treated (ETPKU) patients. European centres were invited survey, collecting retrospective data including...
Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments modalities of care for many lysosomal diseases (LD) can increase life expectancy, a successful TCA help patient who reach avoid disruption health care. In France, some initiatives have been taken by referral centers but view the problems encountered Vaincre les Maladies Lysosomales (VML), LD association, they seem be insufficient. The aim this study determine...