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
- Deficiencia de Piruvato Carboxilasa
- Trimetilaminuria
- Deficiencia de GM3 sintasa
- Síndromes de deficiencia de creatina cerebral
- Deficiencia de glutatión sintetasa
- Porfiria Variegata
- Enfermedad de Pelizaeus-Merzbacher
- Deficiencia de N-Acetilglutamato Sintetasa
- Enfermedad de Niemann-Pick Tipo C
- Enfermedad de la orina con olor a jarabe de arce (MSUD)
- Síndrome de MERRF
- Hiperornitinemia-Hiperamonemia-Homocitrulinuria (Síndrome HHH)
- Deficiencia de esfingomielinasa ácida
- Sandhoff Disease
- Propionic Acidemia
- Menkes Disease
- Primary Mitochondrial Myopathies
- Mucopolysaccharidosis Type I
- Creatine Transporter Deficiency
- Carnosinemia
- TANGO2 Deficiency Disorder
- Hereditary Orotic Aciduria
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Pycnodysostosis
- Classic Infantile CLN1 Disease
- Sepiapterin Reductase Deficiency
- Bile Acid Synthesis Disorders
- Dent Disease
- Hepatoerythropoietic Porphyria
- Centronuclear Myopathy
- X-Linked Protoporphyria
- Familial Partial Lipodystrophy
- 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
- Schindler disease
- X-Linked Myotubular Myopathy
- MELAS Syndrome
- Aspartylglycosaminuria
- Carnitine Palmitoyltransferase 1A Deficiency
- Phosphoglycerate Kinase Deficiency
- Glucose-6-Phosphate Dehydrogenase Deficiency
- Hypokalemia
- Valinemia
- Congenital Sucrase-Isomaltase Deficiency
- Histidinemia
- Medium Chain Acyl CoA Dehydrogenase Deficiency
- Hyperprolinemia Type II
- Multiple Sulfatase Deficiency
- Nonketotic Hyperglycinemia
- Hypophosphatasia
- Acrodermatitis Enteropathica
- Isovaleric Acidemia
- Biotinidase Deficiency
- Familial Lipoprotein Lipase Deficiency
- Homocystinuria due to Cystathionine Beta-Synthase Deficiency
- Acquired Lipodystrophy
- Tyrosinemia Type 1
- Alpha-Mannosidosis
- Pyruvate Dehydrogenase Complex Deficiency
- 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
- Glutaric Aciduria Type II
- Galactosemia
- Osteopetrosis
- Refsum Disease
- Hartnup Disease
- Hereditary Coproporphyria
- Erythropoietic Protoporphyria and X-Linked Protoporphyria
- ALAD Porphyria
- Acute Intermittent Porphyria
- Citrullinemia Type 1
- Ornithine Transcarbamylase Deficiency
- Carbamoyl Phosphate Synthetase 1 Deficiency
- I Cell Disease
- Pseudo Hurler Polydystrophy
- Sialidosis
- Mucopolysaccharidosis Type VII
- Maroteaux Lamy Syndrome
- Mucopolysaccharidosis Type II
- Juvenile CLN3 Disease
- Lesch Nyhan Syndrome
- Fabry Disease
- Pantothenate Kinase-Associated Neurodegeneration
- Cockayne Syndrome
- Blue Diaper Syndrome
- Congenital Adrenal Hyperplasia
- Systemic Primary Carnitine Deficiency
- Alkaptonuria
- Síndrome de deficiencia del transportador de glucosa tipo 1
- Trastornos congénitos de la glicosilación (2021)
- 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)