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