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

7.8367259501101225 48.004833372302414 Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg

Breisacherstr. 62
79106 Freiburg

0761 27043000
Website
Email

0761 27043000
Website
Email

Stoffwechselsprechstunde

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

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

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

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

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

7.8367259501101225 48.004833372302414 Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg

Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg

Breisacherstr. 62
79106 Freiburg

0761 27043000
Website
Email

0761 27043000
Website
Email

Stoffwechselsprechstunde

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

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

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

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

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