Carnitine palmitoyl transferase 1A deficiency
All Entries 8
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Rare renal disease
- Primary bone dysplasia
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Juvenile idiopathic arthritis
- Pediatric systemic lupus erythematosus
- Very long chain acyl-CoA dehydrogenase deficiency
- Cystic fibrosis
- Phenylketonuria
- Glycogen storage disease
- 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
- Hemophilia
- Short chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Argininosuccinic aciduria
- Phenylketonuria
- Medium chain acyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Juvenile idiopathic arthritis
- Behçet disease
- Mucopolysaccharidosis type 1
- Systemic sclerosis
- Ornithine transcarbamylase deficiency
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Huntington disease
- Rare ataxia
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Mitochondrial membrane protein-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Beta-propeller protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- COASY protein-associated neurodegeneration
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Maple syrup urine disease
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Mitochondrial disease
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Medium chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Galactosemia
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin
Parent facilities 0
Genetic Advices 0
Care facilities 7
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
- Maple syrup urine disease
- Disorder of ketolysis
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Glycogen storage disease
- Disorder of branched-chain amino acid metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Disorder of fructose metabolism
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Rare renal disease
- Primary bone dysplasia
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Juvenile idiopathic arthritis
- Pediatric systemic lupus erythematosus
- Very long chain acyl-CoA dehydrogenase deficiency
- Cystic fibrosis
- Phenylketonuria
- Glycogen storage disease
- 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
- Hemophilia
- Short chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Argininosuccinic aciduria
- Phenylketonuria
- Medium chain acyl-CoA dehydrogenase deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Juvenile idiopathic arthritis
- Behçet disease
- Mucopolysaccharidosis type 1
- Systemic sclerosis
- Ornithine transcarbamylase deficiency
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Zentrum für Seltene Erkrankungen Mainz Universitätsmedizin Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Huntington disease
- Rare ataxia
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Mitochondrial membrane protein-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Beta-propeller protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- COASY protein-associated neurodegeneration
Zentrum für angeborene pädiatrische Stoffwechselerkrankungen am LMU Klinikum München
Care for Rare Center am Dr. von Haunerschen Kinderspital am LMU Klinikum München Münchener Zentrum für seltene Erkrankungen (MZSE) am LMU Klinikum
Lindwurmstr. 4
80337 München
- Maple syrup urine disease
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Mitochondrial disease
- Glycogen storage disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Medium chain acyl-CoA dehydrogenase deficiency
- Glutaryl-CoA dehydrogenase deficiency
- Fabry disease
- Galactosemia
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin