Galactosemia Review

This review discusses galactosemia, an inborn error in metabolism that affects carbohydrate metabolism. It explores the symptoms, diagnosis, and management of galactosemia. The article also includes a case study and recommendations for treatment.

Galactosemia Review
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Part 1- Galactosemia review -An inborn error in metabolism
An inborn error in metabolism is a form of the genetic disease which involves the
metabolism disorder on the infant. Majority of these conditions are related to the defect of a
single code gene which facilitates conversions of substrates into products. In most cases,
disease occurs due to the accumulation of substances which are toxic and interfere with
normal functioning through essential compounds. An inborn error in metabolism is critical in
reflecting the rate at which the body utilizes its nutrients. It is a complex coordinated series of
chemical action which occur in the body and necessary to sustain life. Metabolism is essential
for sustenance of growth and helps the body to break own down various processes and aid in
removal of waste products from the cells where they are eliminated from the most of the
metabolisms process take place in a stepwise manner, and can cause series problems, it can
lead to the building of certain elements to be high while making others to be low (Houten,
2017).
Many of the metabolism processes often take place in the stepwise process with one
compound being transformed at different times along the way, further they need to be
transported freely in the body. The chemical processes taking place in the body often require
the help of various enzymes, which allows for specific chemical reaction to take place thus
blocking the major metabolic pathway. Further, it depicts changes in the normal functioning
of enzymes (Argmann, Houten, Zhu & Schadt, 2016). Inborn error occurs from birth and
symptoms don't appear immediately, the body needs an opportunity to make changes and
adjustments on the gene initiating mutation. The mutation may fail to perform well. There are
various metabolic problems which occur, they carbohydrate metabolism, amino acid, fatty
acid, urea cycle, organic academia, mitochondrial disorders among others. This review will
assess the occurrence of carbohydrate metabolism occurring as galactosemia (Wust, Visser,
Wanders & Houtkooper, 2017).
Galactosemia
Galactosemia has various synonyms which entail GALT, galactose diabetes galactose-1-
phosphate, and uridyltransferase deficiency. It is a re-inherited disease which is associated
with carbohydrate metabolism. It can be a life-threatening state occurring during the infancy
period. The cardinal feature occurring at this state entails hepatomegaly, mental handicap, and
cataracts occurrence. It is caused by the mutation in the galactose-1-phosphate
uridyltransferase (GALT) gene occurring in the chromosome 9 at 9p13 (Tang et al., 2012).
There are three forms of galactosemia; classical, clinical and biochemical galactosemia.
Each of these states has its own clinical features and management plan. The most severe form
is the classical galactosemia which results in the various state in the body. It is estimated that
75% of infants die due to this if not screened and diagnosed. Galactosemia is an inherited
recessive gene. Offspring which have a normal gene and defective gene which is
heterozygous act as carriers but do not show symptoms.
Classical galactosemia is a top life-threatening the state of autosomal recessive inborn
error among the three types presenting galactosemia. Statics indicates that it affects between
1/30,000-1/60,000 live births occurring in the USA and worldwide. Most effects are felt with
infants born healthy but develop declined health after exposure to breast milk or milk formula

having high amounts of galactose (Pyhtila, Shaw, Neumann & Fridovich-Keil 2015).
Infant classical galactosemia often represent with life threatening state at the neonatal
period. The need for exclusion of diet with galactosemia is essential, together with
combination of support care for the patient is viatl. Restriction of galactosemia is essential so
as to prevent recurrence of high toxic state. Early diagnosis and management of the disease is
beneficial for the infants. Despite the early interventions initiated, long term complications
are not eliminated form occurrence. Symptoms and states such as cognitive dysfunction can
worsen during old age and lead to gonadal dysfunction among the female patients. Studies
have suggested that there is the dysfunction which is linked to long term effects (Saudubra &
Garcia-Cazorla, 2016).
This form of galactosemia occurs when there is limited ability of the galactose present in
the liver to metabolize, it accumulates in the tissues. Common signs of this defect lead to
failure to thrive, hepatic insufficiency, cataracts development t and delay in development.
Long term defects lead to poor growth, retardation of mental status and ovarian failure in
females (Berry 2014). Further developmental metabolic acidosis can lead to the hemolytic
occurrence. Screening is often undertaken on the GAL-1-p on theurydil transferase activity
action. Early identification allows immediate treatment which may entail changes on the
dietary intake.
GALT occurrence is the most common deficiency leading to abnormality. The enzymes
are converted into the galactose – phosphate and the Uridine Diphosphate –UDP glucose
converted to UDP galactose and occur of glucose—phosphate. Infants with this deficient
portray abnormality in the tolerance of galactose.
The action of galactokinase is associated with the conversion of galactose to galactose-0-
phosphate and the ensuring deficiency. The UDP galactose –epimerase converts UDP to
galactose to UDP glucose with less deficiency. Elevated levels of galactosemia are linked
with a deficiency of enzymes which it produces a toxic effect which produces features of the
diseases (Karadag et al., 2013).
Diagnostics tests performed for galactosemia entails wide range of tests. Beutler tests is a
fluorescent spot test for galactose-1-phosphate uridyl transferase activity. This is the common
diagnostic tests available for galactosemia. False negative can occur after recent blood
transfusion and while false positive occur with the deficiency of glucose-6-phosphate
dehydrogenise. Red blood cell galactose - 1-phosphate uridyl transferase assay is a method
for confirming diagnosis through usage of various variants and residual enzyme activity. Red
blood cell galactose-1-phospahte is used for assessing concentration occurring due to classical
galactosemia. Further assessment of reducing sugars can be undertaken where presence of
reducing sugar is present tin urine. The diagnosis for prenatal infant entails the assay of
Galactose-1-phosphate uridyl transferase being cultured in the amniotic fluids and cells
through galactitol estimation of the amniotic fluid space and chronic biopsies.
In the clinical practice therapies can be offered to the infants as they have unique social
behavioural communication and academic needs later. Enhancing speech therapy is essential
in improving communication skills of the child. There is need to enhance behavioural therapy
as the child grows. This is important in focussing on emotional and behavioural problem of
the problems of the patient .This therapy is essential for the mother to aid in developing and
coping with anxiety and frustration linked to restriction of diet.

Part 2-Case study
This case study reflects on a 30 year old gravid I female delivery weighing 3.1 kgs. The
infant is a four-day-old girl diagnosed with galactosemia through screening of urinary sugar
indicating galactose under paper chromatography method. Upon review, the child was
initiated with lactose-free milk formula which enabled urine free from sugar and proteins.
With the short prognosis time, the response of the infant appears positive. The family history
entails the paternal grandfather had milk intolerances.
Galactosemia is a condition in which the body is unable to process milk sugars referred
to as galactose. This type of sugar is found majorly in milk and generally dairy products
including breast milk. Actually, in essence, the term galactose originates from two terms
which refer to glucose and lactose. Galactose is the sugar found in foods while lactose is the
sugar found in milk. This condition affects a few numbers of infants globally.
Galactose is a condition which an infant is borne with and is linked to family history
thus indicating the child developed the conditioned way a long time before being born. This
condition is tested with various methods using urine and sugars are observed immediately an
infant is borne or it might develop later during the childhood period. Galactose disease is
purely manageable and can be managed through food consumed. For the infant, breast milk
referred to as infant formula is essential for managing the child.
Often the presentations are varied and not all features are observed in the neonatal
period. Infants develop difficulty in feeding, which is linked to vomiting, loss of weight poor
growth during the initial stages of life, the further occurrence of lethargy and hypotonia,
jaundice and hepatomegaly, coagulation effects, sepsis, cataracts, full frontal, developmental
delay, shorter texture, hypergonadotrophic hypogonadism. which is more common in women
with premature failure of the ovaries.
Nutritional features linked to the disease are associated with the infant milk intolerance
levels. Milk intake is broken down into glucose and galactose, which the latter is not digested
in the body leading to immediate release in urine. Assessment of liver function needs to be
undertaken. Fatty infiltration and inflammation occur in the liver early. Hypertension later
develops, with the initiation of liver cirrhosis later.
Later in the years managing through food intake is key. Foods which have high sugars
such as those obtained from dairy products such a cheese, milk, cottages, pudding, ice cream,
sherbet, milk chocolate among others are highly discouraged and eliminated from the diet.
Further, the child needs to be offered calcium supplements to aid in bone growth. Thus the
condition is purely manageable through the recommended food intakes and usage of the milk
substitute.
Infants are screened routinely on the galactosemia. The presenting symptoms include
vomiting, diarrhea, jaundice, and even diarrhea. Diagnostic assessment can be done using
blood tests or urine tests which the three enzymes are needed to alter the galactose sugar
found in food products such as milk into glucose. Infants or individuals with galactosemia do
not have the enzymes causing high levels of galactose in the blood urine
Screening of the newborn can be done and can have series irreversible effects resulting
in death in a few days after birth. Detection of this condition sign newborn screening does not
depend on the protein and lactose ingestion.

Part 3-Recommendation
The key fundamental treatment for classical galactosemia is the elimination of lactose
and galactose from the overall nutrient intake. Early diagnosis and restricted diet can at times
lead to the development of other conditions such as speech difficulties, learning challenges
and neurological impairment. Galactosemia is at times confused with lactose intolerance;
however, galactosemia is a serious condition. Individuals with lactose intolerance have
inherited the state of enzyme shortage and lead to the development of abdominal pains which
occur after ingestion of dairy products with no long term effects, in contrast, galactosemia
state, it causes long term damage on the body
Nutritional features linked to the disease are associated with the infant milk intolerance
levels. Milk intake is broken down into glucose and galactose, which the latter is not digested
in the body leading to immediate release in urine. The presence of galactose as a reducing
sugar is confirmed using Fehling’s or Benedict reagent (Fridoich-Keil et al., 2011).
Early diagnosis and restricted diet can at times lead to the development of other
conditions such as speech difficulties, learning challenges and neurological impairment.
Galactosemia is at times confused with lactose intolerance; however, galactosemia is a
serious condition. Individuals with lactose intolerance have inherited the state of enzyme
shortage and lead to the development of abdominal pains which occur after ingestion of dairy
products with no long term effects, in contrast, galactosemia state, it causes long term damage
on the body (Anwar & Waheed, 2015).
There is a need to limit dairy foods from the diet of the infant. These foods are milk
from animals, cheese, yogurt, cottage cheese, ice cream, sherbet, pudding, creamed soups',
milk chocolate and cheese. These foods need to be eliminated in the diet.
The galactosemia diet for the patient is essential. During later stages of infant life
toleration of lactose can be observed. The restriction observed from milk intake still remains
however. Total adherence to the restriction can be difficult. Adoption of life support therapy
is essential. Introducing solids foods after 4-6 months of age is advisable for the infant. Infant
on galactose restricted diet more often consume a diet which is rich in protein such as beef,
poultry and eggs. Further they can supplement their diet with fruits, vegetables and grains.
Infant formula recommended for the infant is an intake of special lactose-free formula
major recommendation are those made from soy protein isolate. Administration of milk
substitutes can be prescribed such as FP 10 prescription can be administered Further offer he
child calcium supplement to ensure the growth of healthy born.
Since the infant cannot tolerate milk products, they might experience low calcium
levels. thus taking calcium supplements will be essential in boosting the body’s calcium store.
Intake of daily consumption of calcium is essential, further supplementing the diet with
Vitamin D is essential for the patient.
Thus galactosemia intolerance in the body tends to limit the body’s ability to digest the
key nutrients needed in the early growth development. This consequence affects the macro
nutrients digestion thus causing serious significant effects on the infant. Early screening and
diagnosis are essential to manage nutritionally the state.

References
Anwar, A., & Waheed, N. (2015). Galactosemia: Clinical Manifestations, Diagnosis and
Outcome of Early Management. Ann. Pak. Inst. Med. Sci, 11(4), 190-194.
Argmann, C. A., Houten, S. M., Zhu, J., & Schadt, E. E. (2016). A next generation multiscale
view of inborn errors of metabolism. Cell metabolism, 23(1), 13-26.
Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. 2000 Feb 4 [Updated
2017 Mar 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®
[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available
from: https://www.ncbi.nlm.nih.gov/books/NBK1518/
Fridovich-Keil J, Bean L, He M, et al. Epimerase Deficiency Galactosemia. 2011 Jan 25
[Updated 2016 Jun 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-
2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK51671/
Houten, S. M. (2017). Protein moonlighting in inborn errors of metabolism: the case of the
mitochondrial acylglycerol kinase. Journal of inherited metabolic disease, 40(6), 755-
756.
Karadag, N., Zenciroglu, A., Eminoglu, F. T., Dilli, D., Karagol, B. S., Kundak, A., ... &
Okumus, N. (2013). Literature review and outcome of classic galactosemia diagnosed
in the neonatal period. Clinical laboratory, 59(9-10), 1139-1146.
Pyhtila, B. M., Shaw, K. A., Neumann, S. E., & Fridovich-Keil, J. L. (2014). Newborn
screening for galactosemia in the United States: looking back, looking around, and
looking ahead. In JIMD Reports, Volume 15 (pp. 79-93). Springer, Berlin, Heidelberg.
Saudubray, J. M., & Garcia-Cazorla, A. (2016). Clinical approach to inborn errors of
metabolism in pediatrics. In Inborn Metabolic Diseases (pp. 3-70). Springer, Berlin,
Heidelberg.
Tang, M., Odejinmi, S. I., Vankayalapati, H., Wierenga, K. J., & Lai, K. (2012). Innovative
therapy for Classic Galactosemia—Tale of two HTS. Molecular genetics and
metabolism, 105(1), 44-55.
Wüst, R. C., Visser, G., Wanders, R. J., & Houtkooper, R. H. (2017). Ketones and inborn
errors of metabolism: old friends revisited.