Fatal infantile lactic acidosis with methylmalonic aciduria
Parent facilities 0
Genetic Advices 0
Care facilities 5
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Maple syrup urine disease
- Disorder of galactose metabolism
- Disorder of branched-chain amino acid metabolism
- Glucose-galactose malabsorption
- Disorder of fructose metabolism
- Fabry disease
- Disorder of ketolysis
- Gluconeogenesis disorder
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Hereditary fructose intolerance
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
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
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Tyrosinemia type 1
- Galactosemia
- Phenylketonuria
- Glycogen storage disease
- Fabry disease
- Mitochondrial disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Medium chain acyl-CoA dehydrogenase deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Rare ataxia
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- Infantile neuroaxonal dystrophy
- Neurodegeneration with brain iron accumulation
- Classic pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Leukodystrophy
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Hereditary spastic paraplegia
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
Zentrum für metabolische Erkrankungen (ZME)-Tübingen
Paul-Ehrlich-Strasse 23
72076 Tübingen
07071 7049000
07071 7049002
Website
Email