Pyruvate dehydrogenase E1-beta deficiency
Parent facilities 0
Genetic Advices 1
Institut für Medizinische Genetik und Humangenetik an der Charité Berlin
Berliner Centrum für Seltene Erkrankungen (BCSE) Charité Universitätsmedizin Berlin
Augustenburger Platz 1
13353 Berlin
030 450569122
030 450569915
Website
Care facilities 2
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of ketolysis
- Maple syrup urine disease
- Glucose-galactose malabsorption
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
- Glycogen storage disease
- Hereditary fructose intolerance
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
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Email
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- COASY protein-associated neurodegeneration
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration