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for People with Rare Diseases

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Pyruvate dehydrogenase E3 deficiency

Further information on this disease (ORPHANET)

List Contact us

All Entries 4

13.781189918518068 51.05689326744705 Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden

Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden

Universitätsklinikum Carl Gustav Carus Dresden UniversitätsCentrum für Seltene Erkrankungen Dresden (USE)

Fetscherstr. 74
01307 Dresden

0351 4583876
0351 4585802
Website

Amyotrophic lateral sclerosis
Myotonic dystrophy
Botulism
Duchenne and Becker muscular dystrophy
Charcot-Marie-Tooth disease type 1
Dermatomyositis
Rhabdomyosarcoma
Lambert-Eaton myasthenic syndrome
Juvenile myasthenia gravis
Guillain-Barré syndrome
Limb-girdle muscular dystrophy

7.8367259501101225 48.004833372302414 Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)

Breisacherstr. 62
79106 Freiburg

0761 27043000
Website
Email

0761 27043000
Website
Email

Stoffwechselsprechstunde

Hereditary fructose intolerance
Disorder of fructose metabolism
Glucose-galactose malabsorption
Disorder of branched-chain amino acid metabolism
Disorder of galactose metabolism
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Disorder of ketolysis
Maple syrup urine disease
Glycogen storage disease
Fabry disease
Disorder of fatty acid oxidation and ketone body metabolism
Gluconeogenesis disorder

2

11.5623312 48.1328805 Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

LMU Klinikum München

Ziemssenstr. 1a
80336 München

089 440057470
089 440057402
Website
Email

Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik
Integriertes Myasthenie-Zentrum

Atypical pantothenate kinase-associated neurodegeneration
Leukodystrophy
Myasthenia gravis
Neurodegeneration with brain iron accumulation
Mitochondrial disease
Neuroferritinopathy
Classic pantothenate kinase-associated neurodegeneration
Infantile neuroaxonal dystrophy
Huntington disease
Rare ataxia
Pantothenate kinase-associated neurodegeneration
Mitochondrial membrane protein-associated neurodegeneration
Hereditary spastic paraplegia
Beta-propeller protein-associated neurodegeneration
COASY protein-associated neurodegeneration

1

7.7276396 48.0248263 Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Im Moos 4

79112 Freiburg

07665 94470
Website
Email

Amyotrophic lateral sclerosis
Myotonic dystrophy
Proximal spinal muscular atrophy
Mitochondrial myopathy
Poliomyelitis
Polymyositis
Dermatomyositis
Inclusion body myositis
Muscular dystrophy

Parent facilities 0

Genetic Advices 0

Care facilities 3

13.781189918518068 51.05689326744705 Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden

Universitäts NeuroMuskuläres Centrum am Universitätsklinikum Dresden

Universitätsklinikum Carl Gustav Carus Dresden UniversitätsCentrum für Seltene Erkrankungen Dresden (USE)

Fetscherstr. 74
01307 Dresden

0351 4583876
0351 4585802
Website

Amyotrophic lateral sclerosis
Myotonic dystrophy
Botulism
Duchenne and Becker muscular dystrophy
Charcot-Marie-Tooth disease type 1
Dermatomyositis
Rhabdomyosarcoma
Lambert-Eaton myasthenic syndrome
Juvenile myasthenia gravis
Guillain-Barré syndrome
Limb-girdle muscular dystrophy

7.8367259501101225 48.004833372302414 Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)

Breisacherstr. 62
79106 Freiburg

0761 27043000
Website
Email

0761 27043000
Website
Email

Stoffwechselsprechstunde

Hereditary fructose intolerance
Disorder of fructose metabolism
Glucose-galactose malabsorption
Disorder of branched-chain amino acid metabolism
Disorder of galactose metabolism
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Disorder of ketolysis
Maple syrup urine disease
Glycogen storage disease
Fabry disease
Disorder of fatty acid oxidation and ketone body metabolism
Gluconeogenesis disorder

2

11.5623312 48.1328805 Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München

LMU Klinikum München

Ziemssenstr. 1a
80336 München

089 440057470
089 440057402
Website
Email

Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik
Integriertes Myasthenie-Zentrum

Atypical pantothenate kinase-associated neurodegeneration
Leukodystrophy
Myasthenia gravis
Neurodegeneration with brain iron accumulation
Mitochondrial disease
Neuroferritinopathy
Classic pantothenate kinase-associated neurodegeneration
Infantile neuroaxonal dystrophy
Huntington disease
Rare ataxia
Pantothenate kinase-associated neurodegeneration
Mitochondrial membrane protein-associated neurodegeneration
Hereditary spastic paraplegia
Beta-propeller protein-associated neurodegeneration
COASY protein-associated neurodegeneration

1

Supportgroups 1

7.7276396 48.0248263 Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Deutsche Gesellschaft für Muskelkranke e.V. (DGM)

Im Moos 4

79112 Freiburg

07665 94470
Website
Email

Amyotrophic lateral sclerosis
Myotonic dystrophy
Proximal spinal muscular atrophy
Mitochondrial myopathy
Poliomyelitis
Polymyositis
Dermatomyositis
Inclusion body myositis
Muscular dystrophy

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