Pyruvate dehydrogenase E1-alpha deficiency
Übergeordnete Einrichtungen 0
Genetische Beratungen 0
Versorgungseinrichtungen 2
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Fabry disease
- Hereditary fructose intolerance
- Gluconeogenesis disorder
- Maple syrup urine disease
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of fructose metabolism
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Disorder of galactose metabolism
Friedrich-Baur-Institut der Neurologischen Klinik, am LMU Klinikum München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
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- Hereditary spastic paraplegia
- Mitochondrial membrane protein-associated neurodegeneration
- Neurodegeneration mit Eisenspeicherung im Gehirn
- Pantothenate kinase-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Huntington disease
- Infantile neuroaxonale Dystrophie
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- Neuroferritinopathy
- Mitochondrial disease
- Myasthenia gravis
- Rare ataxia
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration