A5073283699- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Folate and B Vitamins Research
- Biochemical and Molecular Research
- Genomics and Rare Diseases
- Childhood Cancer Survivors' Quality of Life
- Adolescent and Pediatric Healthcare
- Child and Adolescent Health
- Metabolomics and Mass Spectrometry Studies
- Pharmaceutical studies and practices
- Glycogen Storage Diseases and Myoclonus
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Peroxisome Proliferator-Activated Receptors
- Neurogenetic and Muscular Disorders Research
- Pharmacological Effects and Toxicity Studies
- Muscle metabolism and nutrition
- Genetics and Neurodevelopmental Disorders
- Cancer, Hypoxia, and Metabolism
- Lysosomal Storage Disorders Research
- Nietzsche, Schopenhauer, and Hegel
- Cholesterol and Lipid Metabolism
- Neonatal and fetal brain pathology
University Hospital Heidelberg
2015-2024
Heidelberg University
2015-2024
Zentrum für Kinderheilkunde
2007-2021
University Medical Center Freiburg
2021
University of Freiburg
2021
German Center for Pediatric and Adolescent Rheumatology
1994-2016
Boston Children's Hospital
2003-2013
Ludwig-Maximilians-Universität München
2010
Harvard University Press
2007
Universitätskinderklinik
1996-2006
BACKGROUND: The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding recurrent episodes hyperinsulinemic hypoglycemia. OBJECTIVE: To evaluate clinical presentation, diagnostic criteria, treatment and long-term follow-up in large cohort CHI patients. PATIENTS: data from 114 patients hospitals were obtained by detailed questionnaire. Patients presented neonatally (65%), during infancy (28%) or childhood (7%). RESULTS: In 20 74 (27%)...
Abstract Background National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other (NBS) technologies show a substantial variation in number types of disorders included the panel. Once established, these methods offer opportunity to extend panels without significant investment cost. However, systematic evaluations are rare, most often only describing parts whole process from taking blood samples long-term evaluation outcome. Methods In prospective single centre...
Abstract Objective: To evaluate the effect of treatment according to current evidence‐based recommendations on neurological outcome patients with glutaric aciduria type I (GA‐I). Methods: Fifty‐two identified by newborn screening (NBS) in Germany from 1999 2009 were followed prospectively. Neurological was assessed occurrence an acute encephalopathic crisis and severity a movement disorder (MD) predominant dystonia superimposing axial hypotonia. Outcome evaluated relation therapy...
Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute (RALF), about 50% of cases, the underlying molecular remains unresolved. Exome sequencing five unrelated individuals with fever-dependent RALF revealed biallelic mutations NBAS. Subsequent Sanger NBAS 15 additional or ALF identified compound heterozygous an six from families. Immunoblot analysis mutant fibroblasts showed reduced protein levels its proposed...
Abstract Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting deficiency mitochondrial glutaryl‐CoA dehydrogenase (GCDH) and, consequently, accumulation glutaric acid, 3‐hydroxyglutaric glutaconic acid and glutarylcarnitine detectable gas chromatography/mass spectrometry (organic acids) tandem mass (acylcarnitines). Depending on residual activity, biochemical high low...
Abstract Urea cycle disorders (UCDs) are inherited of ammonia detoxification often regarded as mainly relevance to pediatricians. Based on an increasing number case studies it has become obvious that a significant UCD patients affected by their disease in non‐classical way: presenting outside the newborn period, following mild course, with unusual clinical features, or asymptomatic only biochemical signs UCD. These surviving into adolescence and adulthood, rendering this group diseases...
Although extended newborn screening (NBS) programs have been introduced more than 20 years ago, their impact on the long-term clinical outcome of individuals with inherited metabolic diseases (IMDs) is still rarely investigated.We studied outcomes IMDs identified by NBS between 1999 and 2016 in a prospective multicenter observational study.In total, 306 screened (115 phenylketonuria 191 other lifelong risk for decompensation) were followed median time 6.2 years. decompensation was...
The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We exploited statistical power a large genotype database to determine relationship between and PKU.A total 9336 PKU patients with 2589 different genotypes, carrying 588 variants, were investigated using an allelic value (APV) algorithm.We identified 251 0-variants encoding inactive PAH, assigned APVs (0 = classic PKU; 5 mild 10...