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
- Disorder of fructose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Pediatric systemic lupus erythematosus
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Cystic fibrosis
- Medium chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Rare renal disease
- Glycogen storage disease
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
- Carnitine palmitoyl transferase 1A deficiency
- Argininosuccinic aciduria
- Medium chain acyl-CoA dehydrogenase deficiency
- Juvenile idiopathic arthritis
- Hemophilia
- Systemic sclerosis
- Ornithine transcarbamylase deficiency
- Mucopolysaccharidosis type 1
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Behçet disease
- Short chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
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
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Phenylketonuria
- Glycogen storage disease
- Fabry disease
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
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Leukodystrophy
- Neurodegeneration with brain iron accumulation
- Mitochondrial disease
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
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
- Disorder of fructose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Glycogen storage disease
- Glucose-galactose malabsorption
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of ketolysis
- Hereditary fructose intolerance
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Gluconeogenesis disorder
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Pediatric systemic lupus erythematosus
- Very long chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Cystic fibrosis
- Medium chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Fabry disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Rare renal disease
- Glycogen storage disease
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
- Carnitine palmitoyl transferase 1A deficiency
- Argininosuccinic aciduria
- Medium chain acyl-CoA dehydrogenase deficiency
- Juvenile idiopathic arthritis
- Hemophilia
- Systemic sclerosis
- Ornithine transcarbamylase deficiency
- Mucopolysaccharidosis type 1
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Carbamoyl-phosphate synthetase 1 deficiency
- Niemann-Pick disease type C
- Adenylosuccinate lyase deficiency
- Behçet disease
- Short chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
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
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
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
- Maple syrup urine disease
- Disorder of urea cycle metabolism and ammonia detoxification
- Tyrosinemia type 1
- Disorder of carnitine cycle and carnitine transport
- Glutaryl-CoA dehydrogenase deficiency
- Galactosemia
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial disease
- Phenylketonuria
- Glycogen storage disease
- Fabry disease
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
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Leukodystrophy
- Neurodegeneration with brain iron accumulation
- Mitochondrial disease
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
Supportgroups 1
Selbsthilfeverein für angeborene Fettsäurenoxidationsstörungen Fett-SOS e.V.
Süderbrokweg 8
10407
Berlin