About Climb

We are a national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Our aim is:

“To ensure the best possible quality of life for children and families affected by metabolic disease and alleviate their suffering with the ultimate aim of prevention and cure.”

We do this by:

  • Funding research and facilitating medical treatment
  • Providing information, counselling and advice for families and professionals.
  • Supporting families through grants to help meet equipment and other costs.
  • Educating professionals and others about this group of diseases.

In doing this we:

  1. Affirm the right of families to access services of a consistently high quality.
  2. Affirm families’ right to information which is accurate, up to date and which they will understand, about their child’s condition.
  3. Complement the other services that exist.
  4. Encourage partnership between GPs, hospital staff, other professionals involved in the care of children with inherited metabolic diseases and their parents.
  5. Promote the allocation of resources to research which has the potential to identify, prevent and cure such disorders.
  6. Include our users and reflect the findings of the latest relevant health and social research in planning our services.

The demand for our services continues to grow. Many children who at one time would have been undiagnosed are now known to have been suffering from a metabolic disease. As medical science and knowledge advances, this trend is likely to continue – there will be more families needing our support, more children relying on us to help find cures. There will, too, be more hope – but only if we have the resources to match demand. We rely heavily on voluntary donations to fund our work. You can find out more about our achievements and how you can help us achieve even more elsewhere in this website.

Contact Climb
Climb Building,
176 Nantwich Road,
Crewe
Cheshire
CW2 6BG
UK

Freephone (information, advice and support): 0800 652 3181
Telephone (fundraising,finance and administration): 0870 7700 325
Fax: 0870 7700 327

Email: info@climb.org.uk
Website: www.climb.org.uk

If you are a parent/carer at home wanting information or advice about a metabolic disease, we suggest that you phone in the first instance so that we can work with you to understand how we can be of most help.

If you live outside the UK please either phone during our normal working hours (UK time) or write enclosing an international reply coupon.

If you are a student wanting information about metabolic diseases please write to us enclosing a large stamped addressed envelope (55p stamp).

For Further information visit the website
www.climb.org.uk

Some of the Diseases represented by Climb

A

Abetalipoprotinaemia
Achondroplasia
Acrodermatitis Enteropathica
Adenosine deaminase deficiency
Adrenal Hyperplasia
Adrenal Hypoplasia
Adrenomyeloneuropathy (AMN)
Adrenoleukodystrophy (Leukodystrophy)
Albrights
Alcaptonuria
Alexander (Leukodystrophy)
Alpers Disease
Alpha One Antitrypsin Deficiency
Alports Syndrome
Arginemia
Arginosuccinic Aciduria (ASA)
Aromatic amino acid decarboxylase deficiency
Arylsulphatase A Deficiency (MLD)
Aspartylglycosaminuria
Ataxia Telangiectasia

B

Barths Syndrome
Bartter Syndrome
Batten Disease
Biotinidase deficiency

C

Cl Esterase Deficiency
Canavan (Leukodystrophy)
Carbohydrate Deficiency Glycoprotein Syndromes
Carnitine Deficiency
Carnitine Palmitoyl Transferase Deficiency
Cerebrotendinous Xanthomatosis
Cholesteryl ester storage disease
Chondrodysplasia Punctata
Citrullinaemia
Cockayne Syndrome
CPS Hyperammonaemia (Carbamylphosphate synthetase deficiency)
Crigler Najjar type 1 and 2
Cystic Fibrosis
Cystinosis
Cystinuria
Cytochrome C Oxidase Deficiency (Mitochondrial Complex IV)

D

Diabetes Insipidus (nephrogenic/pituitary)

E

Ethylmalonic aciduria
Ethylmalonic Adipic Aciduria (Glutaric Aciduria 2)

F

Fabry Disease
Fanconi Syndrome
Farber Disease
Fructose 1/6 Biphosphatase Deficiency
Fructose Interolerance
Fucosidosis
Fumarase Deficiency

G

Galactokinase Deficiency
Galactosaemia
Galactosialidosis
Gangliosidosis GM1/GM2
Gaucher
Gilbert Disease
Glanzmann Thrombasthenia
Glucose-Galactose Malabsorption
Glutaric Aciduria type 1 and 2
Glycogen Storage Diseases
G6PD (Glucose 6 Phosphate Dehydrogenase) Deficiency

H

Haemochromatosis
Hallervorden Spatz
Hartnup Disease
Hermansky-Pudlak syndrome
HHH Syndrome (Hyperornithinemia, hyperammonaemia, homocitrullinuria)
Histidinemia
Holocarboxylase Deficiency
Homocystinuria
4-Hydroxybutyric Aciduria
L-2-Hydroxyglutaric Aciduria
3-Hydroxyisobutyric Aciduria
3-Hydroxy-3-methylglutaric aciduria
Hypercholesterolaemia
Hyperglycinaemia – non ketotic
Hyperinsulinism
Hyperlipidaemia
Hyperlipoprotinaemia
Hyperoxaluria
Hyperprolinaemia
Hypertriglycridaemia
Hypobetalipoprotinaemia
Hypomagnesemia
Hypophosphataemic Rickets (Vitamin D Resistant Rickets)
Hypophosphatasia
Hypothyroidism

I

I Cell Disease
Infantile Hypercalcaemia (Williams Syndrome)
Infantile Neuroaxonal Dystrophy
Isovaleric Acidaemia

K

Kearns -Sayre
Krabbe Leukodystrophy (Leukodystrophy)

L

Lafora Body Disease
LCAD (Long chain Acyl CoA Dehdrogenase Deficiency – see VLCAD)
LCHAD (Long chain 3 hydroxyacyl CoA Dehydrogenase Deficiency)
Leighs Disease
Leprechaunism
Lesch Nyhan
Leukodystrophy – Adrenoleukodystrophy
Leukodystrophy – Alexander
Leukodystrophy – Canavan
Leukodystrophy – Krabbe
Leukodystrophy – Metachromatic
Leukodystrophy – Pelizaeus Merzbacher
Leukodystrophy – Refsums
Leukodystrophy – Zellweger
Lipodystrophy
Lowe Syndrome

M

MADD (Glutaric aciduria type 2)
Mannosidosis (Alpha/beta)
Maple Syrup Disease
Marfan Syndrome
MCAD (Medium Chain Acyl CoA Dehydrogenase) Deficiency
MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes)
Menkes
MERRF (myoclonic epilepsy associated with ragged red fibers)
Metachromatic Leukodystrophy (Leukodystrophy)
2-Methylacetoacetyl-CoA Thiolase Deficiency (Beta Ketothiolase)
Methylenetetrahydrofolate Reductase
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylglutaconic Aciduria
Methylmalonic Aciduria including Cobalamin defects
Mevalonic aciduria
Mitochondrial Cytopathy/Myopathy/Complex I, II, III, IV, lactic acidosis
Mitochondrial DNA depletion syndrome
Molybdenum cofactor Deficiency
Mucolipidosis II
Mucopolysaccharide Disorders
Multiple acyl-CoA dehydrogenase Deficiency
Multiple Carboxylase Deficiency
Multiple Sulphatase Deficiency
Myoadenylate Deaminase Deficiency

N

NAGS (N Acetyl Glutamate Synthetase Deficiency)
NARP (Neurogenic ataxia, retinitis pigmentosa)
Niemann Pick Diseases

O

Olivopontocerebellar Atrophy
Ornithine Aminotransferase Deficiency
Ornithine Transcarbamyltransferase deficiency (Hyperammonaemia)
Osteopetrosis
Oxaluria
5 Oxoprolinuria

P

Pearsons Syndrome
Pelizaeus Merzbacher (Leukodystrophy)
Peroxisomal Disorders
Peroxisome Biogenisis Disorder
Phenylketonuria
Porphyria – Acute intermittent
Porphyria – Coproporphyria
Porphyria – Cutanea Tarda
Porphyria – Erythropoietic
Porphyria – Erythropoietic protoporphyria
Porphyria – Variegate
Progeria
Propionic Acidaemia
Pseudo Hurler Polydystrophy
Pseudohypoaldosteronism
Pseudo hypoparathyroidism
Pseudo pseudo hypoparathyroidism
Purine/pyrimidine disorders
Pyridoxine Dependency with seizures
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate kinase deficiency

R

Refsum (Leukodystrophy)
Respiratory Chain Defect (mitochondrial disorders)
Retts
Rhizomelic Chondrodysplasia Punctata
Riley Day

S

Sandhoff
SCAD (Short chain Acyl-CoA dehydrogenase) deficiency
SCHAD (Short chain 3-hydroxyacyl-CoA dehydrogenase) deficiency
Shwachman Diamond Syndrome
Sialic Acid Storage Disease
Sialidosis
Sickle Cell
Sjogren-Larsson Syndrome
Spherocytosis
Spongiform Leukodystrophy (Canavan)
Steroid sulphatase deficiency (x-linked ichthyosis)

T

Tay Sachs Disease
Tetrydrobiopterin Deficiency
Transcobalamin 2 Deficiency
Tyrosinaemia Type 1, 2, 3

U

Urea Cycle Defect

V

Vitamin D dependent rickets
VLCAD (Very long chain acyl-CoA dehydrogenase) deficiency

W

Williams Syndrome (Infantile Hypercalcaemia)
Wilson Disease
Wiskott-Aldrich Syndrome
Wolman Disease

X

Xanthine Oxidase Deficiency

Z

Zellweger Syndrome

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