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