Carnitine palmitoyl transferase 1A deficiency
All Entries 7
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fructose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Mitochondrial trifunctional protein deficiency
- Juvenile idiopathic arthritis
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Phenylketonuria
- Fabry disease
- Glycogen storage disease
- Cystic fibrosis
- Pediatric systemic lupus erythematosus
- Rare renal disease
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
Klinik und Poliklinik für Kinder- und Jugendmedizin - Pädiatrie I am Universitätsklinikum Halle
Universitätsklinikum Halle (Saale)
Ernst-Grube-Straße 40
06120 Halle (Saale)
0345 557 2388
0345 557 2389
Website
Email
- Mucopolysaccharidosis type 1
- Systemic sclerosis
- Carbamoyl-phosphate synthetase 1 deficiency
- Behçet disease
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Juvenile idiopathic arthritis
- Medium chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Hemophilia
- Argininosuccinic aciduria
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- 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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Disorder of carnitine cycle and carnitine transport
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Tyrosinemia type 1
- Fabry disease
- Phenylketonuria
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin
Parent facilities 0
Genetic Advices 0
Care facilities 6
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Mathildenstraße 1
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fructose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Mitochondrial trifunctional protein deficiency
- Juvenile idiopathic arthritis
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Phenylketonuria
- Fabry disease
- Glycogen storage disease
- Cystic fibrosis
- Pediatric systemic lupus erythematosus
- Rare renal disease
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
Klinik und Poliklinik für Kinder- und Jugendmedizin - Pädiatrie I am Universitätsklinikum Halle
Universitätsklinikum Halle (Saale)
Ernst-Grube-Straße 40
06120 Halle (Saale)
0345 557 2388
0345 557 2389
Website
Email
- Mucopolysaccharidosis type 1
- Systemic sclerosis
- Carbamoyl-phosphate synthetase 1 deficiency
- Behçet disease
- Phenylketonuria
- Short chain acyl-CoA dehydrogenase deficiency
- Juvenile idiopathic arthritis
- Medium chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Ornithine transcarbamylase deficiency
- Adenylosuccinate lyase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Hemophilia
- Argininosuccinic aciduria
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- 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
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Disorder of carnitine cycle and carnitine transport
- Galactosemia
- Glutaryl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Tyrosinemia type 1
- Fabry disease
- Phenylketonuria
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin