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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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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