METABOLIC DISEASE IN CHILDREN
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.
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.
IS THERE A CURE FOR METABOLIC DISEASE?
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. www.climb.org.uk
Information Courtesy of:
Climb
For Further information visit the website
www.climb.org.uk
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
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).
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