Metabolic Support UK
Unit 11-12 Gwenfro
Wrexham, Wales
0845-241-2173
About Metabolic Support UK
Metabolic Support UK are the leading organisation for Inherited Metabolic Disorders (IMDs), supporting thousands of people worldwide through providing individual support, building communities, and continually advocating for and empowering those living with IMDs.
Since its inception in 1981, our organisation has strived to support those in the rare community, expanding new-born screening, accelerating the development of orphan drugs, and acting instrumentally in establishing EURORDIS, ensuring people living with IMDs have the best quality of life possible.Moving forward, utilising our 10 year strategy we will continue to improve the lives of people living with Inherited Metabolic Disorders, and to work collaboratively with our key partners and supporters to ensure that we achieve this. Our strategy focuses on four main pillars: Indvidual Support, Building Communities, Empowerment and Advocacy.
Related Rare Diseases:
- Glucose-Galactose Malabsorption
- Sandhoff Disease
- Aromatic L-Amino Acid Decarboxylase Deficiency
- Propionic Acidemia
- Menkes Disease
- Primary Mitochondrial Myopathies
- Mucopolysaccharidosis Type I
- Arginine: Glycine Amidinotransferase Deficiency
- Guanidinoacetate Methyltransferase Deficiency
- Creatine Transporter Deficiency
- Carnosinemia
- Cerebral Creatine Deficiency Syndromes
- TANGO2 Deficiency Disorder
- Hereditary Orotic Aciduria
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Pycnodysostosis
- Hajdu Cheney Syndrome
- Classic Infantile CLN1 Disease
- Acid Sphingomyelinase Deficiency
- Sepiapterin Reductase Deficiency
- Bile Acid Synthesis Disorders
- Dent Disease
- Hepatoerythropoietic Porphyria
- Centronuclear Myopathy
- X-Linked Protoporphyria
- Familial Partial Lipodystrophy
- Congenital Generalized Lipodystrophy
- Congenital Disorders of Glycosylation
- Glucose Transporter Type 1 Deficiency Syndrome
- Lysosomal Free Sialic Acid Storage Disorders
- Wolman Disease
- Triosephosphate Isomerase Deficiency
- Cerebrotendinous Xanthomatosis
- Maternally Inherited Leigh Syndrome and NARP Syndrome
- Lysosomal Storage Disorders
- Barth Syndrome
- Fucosidosis
- Cytochrome C Oxidase Deficiency
- Crigler Najjar Syndrome
- PMM2-CDG
- Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
- Schindler disease
- Trimethylaminuria
- X-Linked Myotubular Myopathy
- MERRF Syndrome
- MELAS Syndrome
- Aspartylglycosaminuria
- Carnitine Palmitoyltransferase 1A Deficiency
- Phosphoglycerate Kinase Deficiency
- Pyruvate Carboxylase Deficiency
- Glucose-6-Phosphate Dehydrogenase Deficiency
- Hypokalemia
- Valinemia
- Congenital Sucrase-Isomaltase Deficiency
- Histidinemia
- Medium Chain Acyl CoA Dehydrogenase Deficiency
- Hyperprolinemia Type I
- Hyperprolinemia Type II
- Multiple Sulfatase Deficiency
- Glutathione Synthetase Deficiency
- Nonketotic Hyperglycinemia
- Hypophosphatasia
- Acrodermatitis Enteropathica
- Isovaleric Acidemia
- Biotinidase Deficiency
- Familial Lipoprotein Lipase Deficiency
- Primary Hyperoxaluria
- Homocystinuria due to Cystathionine Beta-Synthase Deficiency
- Acquired Lipodystrophy
- Tyrosinemia Type 1
- Tetrahydrobiopterin Deficiency
- Alpha-Mannosidosis
- Pyruvate Dehydrogenase Complex Deficiency
- Pompe Disease
- Glycogen Storage Disease Type VI
- Glycogen Storage Disease Type IX
- Glycogen Storage Disease Type 7
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type V
- Andersen Disease (GSD IV)
- Glycogen Storage Disease Type I
- Leigh Syndrome
- Leprechaunism
- Glutaric Aciduria Type I
- Leukodystrophy
- Glutaric Aciduria Type II
- Galactosemia
- Osteopetrosis
- Refsum Disease
- Hartnup Disease
- Variegate Porphyria
- Hereditary Coproporphyria
- Erythropoietic Protoporphyria and X-Linked Protoporphyria
- ALAD Porphyria
- Acute Intermittent Porphyria
- N-Acetylglutamate Synthetase Deficiency
- Arginase-1 Deficiency
- Argininosuccinic Aciduria
- Citrullinemia Type 1
- Ornithine Transcarbamylase Deficiency
- Carbamoyl Phosphate Synthetase 1 Deficiency
- I Cell Disease
- Pseudo Hurler Polydystrophy
- Sialidosis
- Mucopolysaccharidosis IV
- Mucopolysaccharidosis Type VII
- Mucopolysaccharidosis Type III
- Maroteaux Lamy Syndrome
- Mucopolysaccharidosis Type II
- Juvenile CLN3 Disease
- Lesch Nyhan Syndrome
- Fabry Disease
- Pantothenate Kinase-Associated Neurodegeneration
- Cockayne Syndrome
- Blue Diaper Syndrome
- Pelizaeus-Merzbacher Disease
- Maple Syrup Urine Disease
- Congenital Adrenal Hyperplasia
- Niemann Pick Disease Type C
- Systemic Primary Carnitine Deficiency
- Cystinosis
- Alkaptonuria
- Tay Sachs Disease
- Síndrome de deficiencia del transportador de glucosa tipo 1
- Trastornos congénitos de la glicosilación (2021)
- Pseudohypoparathyroidism
- Enfermedad de Pompe
- Pseudohipoparatiroidismo
- Deficiencia de Arginasa-1
- Aciduria argininosuccínica
- Leucodistrofia
- Deficiencia de L-arginina:glicina amidinotransferasa
- Mucopolisacaridosis IV
- Deficiencia de tetrahidrobiopterina
- Deficiencia de guanidinoacetato metiltransferasa
- Lipodistrofia generalizada congénita
- Enfermedad de Tay Sachs
- Hiperprolinemia tipo I
- Hiperoxaluria primaria
- Deficiencia de L-aminoácido aromático decarboxilasa
- Síndrome de Hajdu Cheney
- Mucopolisacaridosis tipo III
- Cistinosis
- Deficiencia de acil-CoA deshidrogenasa de cadena muy larga (LCAD)
- GM3 Synthase Deficiency
- Hyperornithinemia–Hyperammonemia-Homocitrullinuria Syndrome
