Other patient organisations
You are not alone
We understand how hard it can be to face a diagnosis of a rare condition. As the umbrella patient organisation for all Inherited Metabolic Disorders, we can provide bespoke support, advice, and information and our team are here to listen and help. If you would like to speak to a member of the MSUK Team, please contact us.
There are also a number of other patient organisations, support groups, and online forums tailored to specific conditions with dedicated teams providing support, advice and information. If you are a member of a patient organisation, support group or online forum and would like to be added to this list, please contact us.
A
Adrenoleukodystrophy and other Leukodystrophies
Alex TLC (formerly known as ALD Life) provides practical support, advice and information to patients and families with all leukodystrophies; raises awareness to improve public education into both conditions; and aims to advance medical research into finding better treatments.
Alpha-1 Antitrypsin Deficiency
Alpha-1 UK Support aims to connect patients and families, provide support and education, and improve understanding and awareness of the condition.There is also a disorder-specific forum for those affected by Alpha-1 on Rare Connect.
Alkaptonuria
AKU Society aims to transform the lives of AKU patients through patient support, community building, and medical research. There is also a disorder-specific forum for those affected by AKU on Rare Connect.
Alkaptonuria
AKU Society aims to transform the lives of AKU patients through patient support, community building, and medical research. There is also a disorder-specific forum for those affected by AKU on Rare Connect.
B
Barth Syndrome
Barth Syndrome UK aims to save lives through education, advances in treatment and finding a cure. There is also a disorder-specific forum for Barth Syndrome on Rare Connect.
Batten Disease
Batten Disease Family Association offers informed guidance and support to families and the professionals who work with them, as well as actively increasing awareness of the disease and funding future research to identify potential therapies and ultimately a cure.
SeeAbility’s Heather House in Tadley is a purpose built residential home for young people with a range of disabilities, including sight loss and life-limiting degenerative conditions such as juvenile CLN3 (Batten) disease.
SeeAbility also runs a unique outreach service , available to all families, professionals and caregivers supporting someone with juvenile CLN3 (Batten) disease.
C
Congenital Disorders of Glycosylation
There is a disorder-specific forum for those affected by CDG on Rare Connect.
Batten Disease
Batten Disease Family Association offers informed guidance and support to families and the professionals who work with them, as well as actively increasing awareness of the disease and funding future research to identify potential therapies and ultimately a cure.
SeeAbility’s Heather House in Tadley is a purpose built residential home for young people with a range of disabilities, including sight loss and life-limiting degenerative conditions such as juvenile CLN3 (Batten) disease.
SeeAbility also runs a unique outreach service , available to all families, professionals and caregivers supporting someone with juvenile CLN3 (Batten) disease.
G
Galactosaemia
Galactosaemia Support Group brings families affected by Galactosaemia into contact with each other and offers support where most needed.
Genetic Haemochromatosis
The Haemochromatosis Society is a patient advocacy group and source of high-quality information about Genetic Haemochromatosis.
Glutaric Aciduria Type 1
There is a disorder-specific forum for those affected by GA1 on Rare Connect.
GNE Myopathy
There is a disorder-specific forum for GNE Myopathy on Rare Connect.
Gaucher Disease
Gauchers Association offers support to families with their diagnosis and up-to-date information on the best treatments for Gaucher Disease. There is also a disorder-specific forum for those affected by Gaucher Disease on Rare Connect.
Glucose Transporter Type 1 Deficiency
Matthew’s Friends Glut1UK supports affected patients and families in the UK, raises awareness, helps fund research projects, and provides education and training in the treatment of Glut 1 Deficiency. There is also a disorder-specific forum for those affected by Glut 1 on Rare Connect.
Glycogen Storage Disease
Association for Glycogen Storage Disease offers patient and family support, distributes information, and contributes to the advancement of treatments and cures through sponsorship of research, studies and trials. There is also a disorder-specific forum for GSD Types 1 and 3 on Rare Connect.
H
Hypophosphatasia
Soft Bones UK aims to raise awareness of HPP, to determine early diagnosis, and to support and advocate for those diagnosed with HPP and their families in the UK.
There is also a disorder-specific forum for those affected by HPP on Rare Connect.
I
Ichthysosis
The Ichthyosis Support Group provides an information network and support structure for patients and families affected by Ichthyosis, raises awareness and understanding within the medical profession, and lobbies for greater research into this distressing condition.
K
Krabbe Leukodystrophy
Krabbe UK supports families affected by Krabbe Leukodystrophy, and champions research and awareness of the disease.
L
Lebers Heredetory Optic Neuropathy
The LHON Society connects families to enable them to share experiences, and provides practical and emotional support, and up-to-date information on scientific progress into LHON. There is also a disorder-specific forum for those affected by LHON on Rare Connect.
Lipoprotein Lipase Deficiency
There is a disorder-specific forum for those affected by Lipoprotein Lipase Deficiency on Rare Connect.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
There is a disorder-specific forum for those affected by LCHADD on Rare Connect.
Lowe Syndrome
The Lowe Syndrome Trust supports families, and initiates and funds medical research into Lowe Syndrome. There is also a disorder-specific forum for those affected by Lowe Syndrome on Rare Connect.
M
Mepan Syndrome
There is a disorder-specific forum for those affected by Mepan Syndrome on Rare Connect.
Mevalonate Kinase Deficiency
There is a disorder-specific forum for those affected by MKD on Rare Connect.
Mucopolysaccharide Disease
MPS Society provides professional support to individuals, families, and professionals affected by MPS and related Lysosomal Storage Diseases throughout the UK. There are disorder-specific forums for those affected by Sanfilippo Syndrome and Hunter Syndrome on Rare Connect.
Medium Chain Acyl-CoA Dehydrogenase Deficiency
There is a disorder-specific forum for those affected by MCADD on Rare Connect.
Molybdenum Cofactor Deficiency
There is a disorder-specific forum for those affected by MoCD on Rare Connect.
Metachromatic Leukodystrophy
MLD Support Association UK provides support to families, enabling them to share their experiences; provides information to medical professionals to ensure a correct diagnosis, on-going care and treatment options; and supports research into therapeutic procedures for MLD research.
Mitochondrial Disease
The Lily Foundation supports people whose lives are affected by Mitochondrial Disease, raises awareness, and funds research into prevention, diagnosis, and treatment. There are disorder-specific forums for those affected by Mitochochondrial Diseases and Leigh Syndrome on Rare Connect.
Mevalonate Kinase Deficiency
There is a disorder-specific forum for those affected by MKD on Rare Connect.
Methylmalonic Acidemia
The Organic Acidemia Association support patients with organic acidemia metabolic disorders, including Methylmalonic Acidemia.
Multiple Sulfatase Deficiency
There is a disorder-specific forum for those affected by Multiple Sulfatase Deficiency on Rare Connect.
N
Niemann-Pick
NPUK is dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases by raising awareness; providing practical and emotional support, advice and information; and facilitating research into potential therapies. There is also a disorder-specific forum for those affected by Niemann-Pick Type C on Rare Connect
O
Organic Acidemias
The Organic Acidemia Association support patients with organic acidemia metabolic disorders.
P
Propionic Acidemia
The Organic Acidemia Association support patients with organic acidemia metabolic disorders, including Propionic Acidemia.
Porphyria
The British Porphyria Association supports and educates patients, relatives and medical professionals to help improve the lives of those affected, and promotes research into this group of rare conditions. There is also a disorder-specific forum for those affected by Porphyria on Rare Connect.
Pyruvate Dehydrogenase Deficiency
The Freya Foundation raises awareness of PDH, provides information and advice, and works with medical specialists to help improve diagnosis, treatments and managing the condition.
Phenylketonuria
NSPKU exists to help and support people with PKU, their families, and carers and actively promotes the care and treatment of PKU, working closely with medical professionals in the UK.
Primary Carnitine Deficiency
There is a disorder-specific forum for those affected by Primary Carnitine Deficiency on Rare Connect.
R
Refsum Disease
Global DARE Foundation‘s mission is to promote worldwide awareness and better quality of life for all who are diagnosed with Adult Refsum Disease. They aim to support research, education initiatives, awareness campaigns and advocacy. Driving research is at the centre of what they do because they DARE to believe that there is a cure for Adult Refsum Disease.
T
Tay Sachs and Sandhoff Disease
The CATS Foundation supports families whilst also raising awareness of Tay Sachs and Sandhoff Diseases.
Trimethylaminuria
There is a disorder-specific forum for those affected by Trimethylaminuria on Rare Connect.
U
Urea Cycle Disorders
UCD Support Group is a friendly and supportive group on Facebook for those affected by Urea Cycle Disorders in the UK. This is a closed group which you will need to request to join, and only the other members of the group will be able to see your posts, ensuring a safe and private space. Please contact us for further information.
There is also a disorder-specific forum for those affected by Urea Cycle Disorders on Rare Connect.
X
X-Linked Hypophosphataemia
XLH UK promotes awareness and education for affected families and supports clinicians and other providers of medical care for better diagnosis and treatment.
Z
Zellweger Syndrome
Zellweger UK supports families dealing with Peroxisomal Disorder on the Zellweger spectrum and helps to fund much-needed research.
