How do children get a metabolic disease?

We all have genes inherited from our parents which decide whether we are tall, short, fair, dark, etc. Some genes we inherit are “recessive”, that is, we carry the gene but it does not show up in us anywhere. When we have children, if our partner carries exactly the same recessive gene, there is a one in four chance in every child we have that these recessive genes will match up and become “dominant” showing in the child.
Often the matching of recessive genes leads to nothing more extraordinary than, perhaps, a red-haired child of dark haired parents. However, if the recessive genes are carriers of a metabolic disorder, the child will have a metabolic disease although his/her parents do not.

Is there a cure for metabolic disease?

Other metabolic diseases usually affect only boys and are carried by the mother. These are known as X linked, being carried on the sex chromosome. If the child is male there is a 1 in 2 chance that he will be affected. Climb strongly recommends that expert genetic advice is given when a diagnosis is made.

A decade ago the answer to this question would be no. However, recent advances in research mean that for a handful of conditions, treatment is on the horizon through gene therapy. This means there is a brighter future for many children where there was no hope before, and within the next 20 years, the outlook should be even more promising.

Can metabolic diseases be treated?

Much progress has been made, as mentioned above, to treat metabolic diseases with diet or drugs to restore the chemical balance or through organ transplantation. Bone marrow or liver transplantation in some cases means that the donor marrow or liver can introduce the enzyme missing in the recipient but this form of therapy is available for a very limited number of disorders and is not without risk. Direct infusions of the missing enzyme is another method of treatment that has been used successfully in one or two disorders.

For those conditions where no treatment is available, research is aimed at improving the management of symptoms (e.g. anti-convulsant drugs), physiotherapy, speech therapy, specialist approaches to learning and education and the use of individually adapted aids and equipment all help to maintain a good quality of life for the affected child.

How could research help?

Research could help in four ways:

Efficient, early diagnosis, pre-natally where possible, so that the affected foetus or child could be stabilised as soon as possible.
The detection of carrier genes which have a metabolic disorder so that appropriate counselling can be offered.
The search for a cure which, in many cases, may mean the isolation of an enzyme or gene and its introduction into the body without rejection or being inactivated in some way.
The study of new and more effective treatments, to alleviate symptoms as far as possible until the day that a cure is found.

What are the most common metabolic diseases called?

Gaucher’s, Leigh’s, Tay Sachs, Cystinosis, Batten’s, Schilders, Sandhoff’s, Alpha One Antitrypsin Deficiency, Galactosaemia, Tyrosinaemia, Leukodystrophies, Glycogen Storage Diseases, Hyperammonaemia and the optic acidaemias. National screening occurs for one metabolic condition called Phenylketonuria (PKU) so some mothers may remember the heel prick their infant had at a few days old. If detected in the infant, a special diet is followed which completely prevents the brain damage that would otherwise occur. A fuller list of disorders is available on the Climb website.

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For Further information visit the website

Climb is a national umbrella organisation working on behalf of children, young people and families affected by metabolic disease.
Founded in 1981, as the Research Trust for Metabolic Diseases in Children, we strive to bring hope, comfort and support to the thousands of children, young people and families through providing emotional and practical support, information and advice and by funding much needed research.

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

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


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).