Thomas Opladen
A5034531104- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Genetic Neurodegenerative Diseases
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Biochemical and Molecular Research
- Metabolomics and Mass Spectrometry Studies
- Neonatal Health and Biochemistry
- Neurological diseases and metabolism
- Pluripotent Stem Cells Research
- Pharmacological Effects and Toxicity Studies
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- RNA modifications and cancer
- CRISPR and Genetic Engineering
- Neuroscience and Neuropharmacology Research
- Biotin and Related Studies
- Neurogenetic and Muscular Disorders Research
- Neurological and metabolic disorders
- Pancreatic function and diabetes
University Hospital Heidelberg
2016-2025
Heidelberg University
2016-2025
University Children's Hospital Zurich
2005-2023
Children's Clinical University Hospital
2020-2023
Uniwersytecki Szpital Dziecięcy
2020-2023
KK Women's and Children's Hospital
2023
Riyadh Armed Forces Hospital
2023
German Center for Pediatric and Adolescent Rheumatology
2021-2022
Heidelberg University
2021-2022
German Center for Neurodegenerative Diseases
2017
In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MTHF) levels in the cerebrospinal fluid are low, but serum and erythrocytes normal. We examined specimens from 28 children with 5 of their mothers, age-matched control subjects, 41 patients an unrelated neurologic disorder. Serum 25 0 subjects contained high-affinity blocking autoantibodies against membrane-bound receptors that present on choroid plexus. Oral folinic acid normalized 5MTHF led to clinical improvement....
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations result severe reduction of synthesis cells and are most common cause DOPA-responsive dystonia, a rare disease that classically presents childhood with generalized dystonia dramatic long-lasting response to levodopa. We describe clinical, genetic dopaminergic imaging ([123I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl) tropane single photon...
Leukoencephalopathy with brainstem and spinal cord involvement lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that phenotypic range of disease much wider than initially thought. Currently, no treatment available. The aims our study were (i) to explore possible genotype–phenotype correlation; (ii) identify potential therapeutic agents modulate splice site intron 2 present...
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to complex syndrome motor, behavioral, autonomic symptoms. This retrospective study assessed the symptoms developmental outcome large international cohort patients with AADCD via physician and/or caregiver responses detailed, standardized questionnaire. Sixty-three (60% female; ages...
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by defect of γ-aminobutyrate (GABA) catabolism. Despite the resultant hyper-GABAergic environment facilitated defect, individuals with this have paradoxically high prevalence epilepsy. We aimed to study characteristics epilepsy in SSADHD and its concordance GABA-related metabolites neurophysiologic markers cortical excitation.
Neurotransmitters are chemical messengers that enable communication between the neurons in synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport a group very rare neurometabolic diseases resulting neurological impairment at any age from newborn to adulthood. The International Working Group on Neurotransmitter related Disorders (iNTD) is first international network focusing study primary secondary disorders. It was founded with aim foster exchange improve...
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, precursor both norepinephrine and epinephrine, serotonin. Diagnosis based on analysis CSF or plasma metabolites, AADC activity in testing for variants DDC gene. The exact prevalence deficiency, number patients, variant genotype are not known. Here, we present (n = 143) 151) 348 patients with 121 whom were previously reported. In addition, report 26 new...
Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within Boston Children’s Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including NIH-sponsored natural history study clinical, neurophysiological, neuroimaging, molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, development murine for tightly regulated,...
Abstract The objective of the study is to evaluate evolving phenotype and genetic spectrum patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long‐term follow‐up. Longitudinal clinical biochemical data 22 pediatric 9 adult individuals SSADHD from patient registry International Working Group on Neurotransmitter related Disorders (iNTD) were studied silico analyses, pathogenicity scores molecular modeling ALDH5A1 variants. Leading initial symptoms, onset infancy,...
Abstract This report details the case of an infant with confirmed propionic acidemia who presented progressive neurological deterioration and recurrent episodes metabolic decompensation elevated lactate levels, but without hyperammonemia. The child's clinical course neuroradiological findings increasingly deviated from known spectrum acidemia. A rapid trio exome sequencing identified SLC19A3 ‐related thiamine metabolism dysfunction syndrome 2 as a second genetic disease. pathomechanisms both...
Abstract Background Patients with mutations in the monocarboxylate transporter 8 (MCT8, SLC16A2 ) suffer from X‐linked recessive Allan‐Herndon‐Dudley syndrome (AHDS), which is characterized by developmental delay and a severe movement disorder. Current trials using thyroid hormone derivatives to overcome defect have failed achieve patient‐oriented therapeutic goals. Objectives Our aim was define type of disorder AHDS an observational cohort study investigate causative role dopaminergic...