National Information Centre

for Metabolic Diseases

a resource for young people, adults, families and professionals

Freephone 0800 652 3181

Supporting families,  

       Changing lives

 

 

 

 

 
  Families   Adults   Professionals   Shop  

Welcome to Climb National Information Centre for Metabolic Diseases

List of Supported Inherited Metabolic Diseases

'D'

(all files are in pdf format)

Name                                                        Translations                                  Also Known As
    Urdu Punjabi Welsh      
D2 Hydroxyglutaric Aciduria           D2-HGA
Dandy-Walker Syndrome           Dandy-Walker Malformation
Danon Disease           Glycogen Storage Disease IIb
D-Bifunctional Protein Deficiency          
De Barsy Syndrome           Progeroid Syndrome of De Barsy
Dent Disease              X-Linked Nephrolithiasis
Dentato-Olivary Dysplasia          
Dentatorubral – Pallidoluysian Atrophy           DRPLA
Dercum Disease           Adiposis Dolorosa
Desmosterolosis                        
D-Glyceric Aciduria           D-Glycerate Kinase Deficiency
Dienoyl CoA Reductase Deficiency (2, 4-)           
DiGeorge Syndrome           Pharyneal Pouch Syndrome
Dihydrolipoamide Dehydrogenase Deficiency               DHLD Deficiency
Dihydropteridine Reductase Deficiency           Phenylketonuria Type II
Dihydropyrimidinase Deficiency           DHP Deficiency
Dihydropyrimidine Dehydrogenase Deficiency           Combined Uraciluria-Thyminuria
Dihydroxyacetone Phosphate Acyltransferase Deficiency           DHAPAT Deficiency - Rhizomelic Chondroplasia Punctata Type 2
Disaccharidase Deficiency          
Dopamine Beta-Hydroxylase Deficiency           Noradrenaline Deficiency
Drash Syndrome           Denys-Drash Syndrome
Duarte Galactosaemia          
Dubin-Johnson Syndrome           Hyperbilirubinemia II
Duchenne Muscular Dystrophy           DMD
Dyggve-Melchior Clausen Disease           DMC Disease
Dysautonomia - Familial           Riley Day Syndrome
Dysbetalipoproteinaemia           Hyperlipoproteinaemia Type III
Dystonia            

 

 
bulletDocuments are in pdf format - click here to download a reader if your computer does not support this

Join the forum at www.nicmd.org.uk
 

 



©Copyright Climb 2012 - not to be reproduced without prior authorisation.
For problems or questions regarding this web contact webmaster@climb.org.uk
Last updated: 15 May 2012

Climb Building, 176 Nantwich Road, Crewe. CW2 6BG. UK

Climb Registered Charity No 1089588