November 2011
23
Premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a very common long-term complication. This occurs in
about 80% to 90% of women with galactosemia, despite neonatal diagnosis and lifelong dietary
galactose restriction. Hormone replacement may be necessary to induce puberty.
11,12
Fertility
Galactosemia patients who have trouble conceiving spontaneously may benefit from ovulation
stimulation through exogenous gonadrotropins. For women in whom ovarian stimulation fails or
cannot be performed oocyte donation might be an option.
Options to maintain or restore fertility should be further explored. Ovarian tissue cryopreservation
could be a possible solution to preserve fertility in galactosemia. However the current state of this
technology is not yet reliable and might offer too much hope at this point. Furthermore difficulties
arise from the questions at which age this invasive procedure should take place and weather it is
justified considering the fluctuation of POI and the occurrence of spontaneous pregnancies.
11,13
Pregnancy
Spontaneous pregnancies in women with classic galactosemia do occur; women have a 5-10%
chance of conceiving spontaneously after POI-diagnosis. There is no evidence that a pregnancy has
a deleterious effect on the galactosemic mother and her child. Furthermore there is no evidence
for clinical or subclinical significant changes of metabolic control during pregnancy, delivery or
lactation, therefore a specific metabolic monitoring is apparently not required in pregnant
galactosemic women. There is also no evidence that breast-feeding is contra-indicated in
galactosemic women, thus breast feeding of the non-galactosemic offspring can be
recommended.
11,13,14
Osteopenia
Decreased bone mass in early childhood is frequently seen in classical galactosemia. This may be
caused by abnormalities in bone metabolism
15,16
,
possibly due to an intrinsic defect in the
galactosylation of the collagen matrix of bone
17
or be diet-related.
Regular bone mass measurements and preventive treatment should begin in childhood. Lifestyle
factors such as physical activity, intake of calcium, vitamins K and D and estrogen supplementation
should be optimized.
18
Cataract
Cataract only occurs during the first weeks of life before the start of the diet. In a study cohort no
cataracts affecting vision were found. A direct relationship between dietary compliance and
cataract formation was not demonstrated. Therefore regular life-long ophthalmic exam of patients
with classical galactosemia may not be necessary.
19
Social Development
A study showed that having galactosemia negatively influences the Health-Related Quality of Life
(
HRQoL). In all age groups they found a consistently lower reported HRQoL, most striking on the
cognitive domain but also on the domain of communication and social function. Patients of 16
years and older had significant lower scores on domains of cognitive and social function.
8