Galactosemia Review

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.