galactosaemia register
paediatrician/dietitian will either:-
by Pat Portnoi
1. Give them an Information Pack
from a supply they have in clinic
Register Coordinator, 2. Send a New Patient Notification
Galactosaemia Support Group
Form to the Register Coordinator,
who will then send the parents
the Information Pack.
The UK Galactosaemia register
The Information Pack consists of
- Parent letter
Galactosaemia is an autosomal Minimum information will be collect-
- Consent form
recessively inherited disorder of
ed and stored about each patient.
- Information sheet about the
galactose metabolism. Classical
Any potential researcher will need to
Register
galactosaemia has an incidence
approach the ‘The Medical Advisory
- Information Questionnaire
in the UK of 1:45,000 and there
Panel of the GSG’, submitting a full
- Information on the Galacto-
are many different mutations. It is
protocol of their ethically approved
saemia Support Group
caused by the deficiency of the en-
study. The Medical Advisory Panel will
- SAE for reply to Coordinator
zyme GALT (galactose-1-phosphate
then consider the suitability of studies
uridyl transferase), which metabolis-
and, if approved, I will then approach
The consent form and information
patients on the register to see if they
es galactose. As a result of the GALT
questionnaire should be sent back
would like to receive more informa-
deficiency, galactose builds up in
to the Coordinator in the envelope
tion about specific studies.
the blood.
provided and only then will the pa-
Galactosaemia presents in the
tient be logged onto the register. The
Background
neonatal period with life threatening
paediatrician may be contacted to
Only 10-20 children are born in the
illness and a variety of symptoms in-
fill in the questionnaire if the parents
UK with galactosaemia every year.
cluding poor feeding, vomiting, jaun-
have not completed it, or only par-
Between 1994 and 2002, a galacto-
dice, hepatomegaly and encepha-
tially completed the questionnaire.
saemia register was run, collecting
lopathy. The neonate may be very
a large amount of information on all
ill. However management consists of
Summary
children born between those years.
The help of dietitians with this
avoiding galactose, and as the major
The funding for this stopped in 2002
register will be much appreciated.
source is milk sugar (lactose is com-
and data has not been collected
Dietitians will be invaluable as they
posed of 2 monosaccharides-glucose
since.
spend a lot of time with the families
and galactose), a milk free diet is an
A more simple new register funded
of a new baby with Galactosaemia.
effective treatment.
by the GSG, is now being set up that
This register will help further under-
The lactose free diet must be
will collect data on those born with
standing of the condition.
lifelong, and although there are other
galactosaemia. This data will be held
sources of galactose in the diet,
centrally. It is hoped eventually to
there is little evidence to suggest that
transfer the old data to this new reg-
restricting these would be beneficial.
How to get hold of the
ister, and then collect data on those
There are still aspects of galacto-
born between 2002 and the present,
Information Packs and New
saemia that are not fully understood
and other older patients.
Patient Notification Forms?
and further research is needed.
The UK Galactosaemia Support
The New Register
The Register Coordinator will send
Group (GSG) is funding a national
Data collection started January
you as many packs, notification
register, with the ultimate aim of
2008.
forms and envelopes as required.
including all patients with galacto-

Dietitians are asked to request
saemia in the UK. The main function
What information will be collected by
these directly. The information
of the register is to keep a data-
the register?
can be sent electronically or as
base of all patients who may be
The information collected will be
individual packs.
approached at a later date to do
name, address, NHS number, gender
national research on galactosaemia.
and date of diagnosis, date of birth,
However, being on the database
and name of Paediatrician. Dietitians can contact the Regis-
does not mean that an individual has
ter Coordinator in one of the follow-
consented to do research on galac-
How will the register work? ing ways:
tosaemia; it only means they may be
When a new case is identified, the
approached about research projects.
laboratories can no longer give any E-mail:
There will be systems in place to
information directly, due to Caldi- pat.portnoi@virgin.net
monitor all of this. The register will be
cott Guardian regulations. The help
maintained and updated by myself
of consultant paediatricians and
Phone:
(an experienced dietitian who has
dietitians is therefore requested. The
01695 422247
worked in metabolic disease for
paediatrician or dietitian is requested Post:
many years, and currently works as
to ask the parents of a new baby if Pat Portnoi
the GSG dietitian). The GSG is regis- they would like to receive information
Galactosaemia Register Coordinator
tered under the Data Protection Act about the Galactosaemia Register. If
5 Granville Park, Aughton,Ormskirk
and all data will be handled carefully. the parents consent to this then the
Lancs L39 5DS
NHDmag.com May ‘08 - issue 34 15
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