TYPES AND CAUSES
There are several types of GSD. One is
glycogen storage disease type I. This
condition is caused by a defect in glu-
in the liver. The
majority of GSDs have an autosomal
of inheritance: they
occur when a child inherits the affected
from parents who are carriers.
SYMPTOMS AND SIGNS
These features vary according to the
particular type of GSD. Symptoms and
signs may include failure to grow nor-
mally during childhood; muscle cramps
and wasting; an enlarged liver; and low
blood glucose levels.
DIAGNOSIS, TREATMENT, AND OUTLOOK
Diagnosis may involve biochemical tests
on tissue samples from
a muscle or a liver
Some types of GSD can be controlled
by management of symptoms, includ-
ing by diet control. In certain cases a
is an option, but in other
cases no treatment is possible and death
occurs in the first few years of life.
The presence of
in the urine.
Glycosuria results from failure of the
to reabsorb glucose back into
the bloodstream after the blood has
been filtered to remove waste products.
Failure to reabsorb sufficient glucose
may be due to
normally high blood glucose level), as
It may also occur if
the kidney tubules have been damaged
(for example, through drug poisoning)
and thus cannot reabsorb even normal
amounts. In addition, glycosuria may
occur during pregnancy, but is usually
not serious provided that the blood glu-
cose level is normal and there are no
Glycosuria is diagnosed by testing the
depends on the cause.
A form of
that is bound to
between three and eight per cent of
haemoglobin is glycosylated. In people
the level of glyco-
sylated haemoglobin may be raised if
treatment has not kept the blood glu-
cose level within the normal range.
Glycosylated haemoglobin levels in -
dicate blood glucose levels over the
preceding three months.
genetically modified foods.
Pertaining to the
as in gnathitis
(inflammation of the jaw).
Enlargement of the
as a swelling at the base of the neck.
The thyroid gland may enlarge (with-
out any disturbance of its function) at
during pregnancy, or in women
In many parts
of the world the main cause of a goitre
is a dietary deficiency of
ment that the thyroid needs in order to
produce thyroid hormone. This form of
the condition is called
A condition called toxic goitre devel-
ops as a result of
and in certain other forms of
(overactivity of the thy-
roid gland). A goitre is also a feature of
different types of
tion of the thyroid gland), including
Other causes include a tumour
or nodule in the gland and, in rare
There are also various types of fam-
ilial goitre. This kind of goitre is caused
by an inherited thyroid disorder; it
appears during childhood and is often
associated with signs of
such as learning difficulties.
A goitre can range in size from a barely
noticeable lump to a large swelling, de-
pending on the cause. Large goitres may
press on the
Appearance of goitre
The thyroid gland can become enlarged for a
variety of reasons, including dietary deficiency of
iodine, inflammation, or an autoimmune disorder
affecting the gland.
DIAGNOSIS AND TREATMENT
Diagnosis may involve various
including blood tests and
to determine the
activity of the thyroid gland.
A goitre that is not due to disease
may eventually disappear of its own
accord. Goitre due to iodine deficiency
can be treated by iodine-rich foods.
When a goitre is the result of disease,
treatment is for the underlying disorder.
Large goitres can be surgically removed
A precious metal. Certain compounds
containing gold are used to treat severe
arthritis arising as a complication of
Gold is used in a form called sodium
aurothiomalate, given as intramuscular
injections, or is taken orally (see
A common adverse effect of gold
tion). Gold may result in damage to the
kidneys, liver, and bone marrow and
may also cause loss of appetite, nausea,
hermaphroditism (a biological
condition in w hich the external geni-
talia of a genetic male resemble those of
testes but have a small penis and a
divided scrotum that resembles labia.
in w hich
head and face fail to develop normally
before birth. Common features include
missing or abnormally developed ears
and malformations of the jaw, mouth,
palate, eyes, and vertebrae.
A condition caused by overuse of the
forearm muscles that bend the wrist
and fingers, usually due to activities
such as using a screwdriver or playing
golf with a faulty grip. The injury leads
to inflammation of the
prominence) on the inner part of the
where the affected muscles are
attached. Symptoms include pain and
tenderness of the elbow and sometimes
also the forearm.