Fatal infantile lactic acidosis with methylmalonic aciduria
Institutions de rang supérieur 0
Conseil génétique 0
Institutions de prise en charge 5
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Disorder of ketolysis
- Disorder of branched-chain amino acid metabolism
- Disorder of fructose metabolism
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Fabry disease
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Maple syrup urine disease
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
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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- Myasthenia gravis
- Classic pantothenate kinase-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Neuroferritinopathy
- Mitochondrial disease
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- Huntington disease
- COASY protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München
Lindwurmstr. 4
80337 München
- Glycogen storage disease
- Very long chain acyl-CoA dehydrogenase deficiency
- Disorder of urea cycle metabolism and ammonia detoxification
- Tyrosinemia type 1
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Phenylketonuria
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Galactosemia
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
07071 7049000
07071 7049002
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