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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

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

Fetscherstr. 74
01307 Dresden

0351 4583876
0351 4585802
Website

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

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

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

1

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 440057400
089 440057402
Website
Email

Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik

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

2

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

Inclusion body myositis
Muscular dystrophy
Mitochondrial myopathy
Dermatomyositis
Poliomyelitis
Polymyositis
Proximal spinal muscular atrophy
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

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

Fetscherstr. 74
01307 Dresden

0351 4583876
0351 4585802
Website

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

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

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

1

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 440057400
089 440057402
Website
Email

Spezialambulanz für erbliche neuromuskuläre Erkrankungen und Neurogenetik

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

2

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

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

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