I.

INTRODUCTION
Galactose is a water-soluble monosaccharide with the molecular formula C6H12O6.
It is a C-4 epimer of glucose and is less sweet. It is sometimes abbreviated as Gal.
Galactose is an aldohexose, a six-carbon sugar with an aldehyde group attached
to the first carbon (C-1). The aldehyde group reacts with the hydroxyl group of the
fifth carbon (C-5) in the same chain, to form a ring structure with six members,
five of which are carbons and one member being oxygen.
Galactose is one of the two monosaccharides that make up lactose, a disaccharide
found in milk and dairy products. Galactose is also used in proteoglycans,
glycolipids and glycoproteins, and it may be converted to galactosamine, then Nacetylated and further modified. These derivatized forms of galactose are used as
constituents of mucopolysaccharides such as chondroitin sulfate and keratan
sulfate. Galactose and its derivatives form part of the immune defense system
and serve as identifiers between self cells and nonself cells. This is especially
prominent in red blood cells, as the presence or absence of galactose or Nacetylgalactosamide on the surface of the red blood cell determines ABO blood
type.
CASE PRESENTATION
This is the case of a male, first child born of parents with no known consanguinity.
Delivery was normal and birth weight was 3.78 kg. The patient developed
increasing jaundice from the third day of life, in addition to indolence and difficulty
in feeding. Test results reported no blood incompatibilities. A serum bilirubin of
505 micromoles/L was noted at 6 days of age, along with reports of the patient
being 15% below normal weight. The patient was hospitalized on day 7,
whereupon it was discovered that his muscular tonus was increased. He
eventually began to convulse. Three blood transfusions between days 7 to 9 failed
to lower serum bilirubin concentrations. On his ninth day of life, liver enlargement
was noticed, along with vomiting. Cerebral symptoms were also accentuated.
Urine gathered in the sixth and seventh day of life tested positive for reducing
sugars, but negative for D-glucose. Hereditary galactosemia was suspected, and
special tests performed during the eighth day of life confirmed the diagnosis.
Hemoglobin: 12.4 mmol/L (200g/L)
AST: 299 Karmen- Ordell units
ALT: 202 units (normal after 7th day)
Bilirubin(max): 549 micromole/L (at 7th day)
Galactose-1-uridyl transferase (in erythrocytes): 0 (normal values 2 to 31 units/g
hemoglobin)
Milk feeding was stopped on the ninth day and replaced with intravenoug glucose
administration. A galactose-free diet was introduced from the tenth day of life.
Patient condition dramatically improved thereafter.

II. DISCUSSION
A. GALACTOSE ABSORPTION
Galactose is ingested as the disaccharide lactose, which is hydrolysed by the
enzyme lactase found in the brush border of the small intestine (Bowen, 2006).
The hydrolysis of lactose produces glucose and galactose. These are transported
into the cytoplasm of the enterocytes via the SGLUT-1 protein found at the apex, a
sodium-dependent hexose cotransporter that transports one molecule of glucose
or galactose along with two Na+ ions into the cell. Galactose is then transported
into the portal blood system of the liver by the GLUT 2 protein found at the
basolateral portion of the enterocyte (Shils & Shike, 2006).
B. GALACTOSE METABOLISM
Within the hepatocyte, galactose is phosphorylated into galactose-1-phosphate by
galactokinase, using up one molecule of ATP. Galactose-1-Phosphate is then
uridylated into UDP-Galactose using the enzyme Galactose-1-phosphate uridyl
transferase, with the UDP (uridine diphosphate) being derived from a molecule of
UDP-Glucose, which becomes Glucose-1-phosphate after the reaction. Glucose-1phosphate can be readily metabolized into glucose-6-phosphate, which will enter
the glycolytic pathway, or stored as glycogen.
The UDP-Galactose molecule is epimerized by the UDP-Galactose-4-epimerase
into UDP-Glucose, which will react with any incoming Galactose-1-phosphate as a
UDP donor (Fig. 1).

Figure 1. Galactose metabolic pathway (2014)

The conversion of UDP-Galactose to UDP-Glucose is reversible, and therefore
permits the formation of lactose without the need for the ingestion of galactose.
The process requires the galactose of a UDP- Galactose molecule to be transferred
to a glucose molecule using the enzyme lactose synthase to form lactose and a
free UDP molecule (Harvery & Ferrier, 2012) (Fig. 2).

Figure 2. Lactose synthesis pathway (Chhabra, 2012)

REFERENCES
(2014). Retrieved from
http://dc304.4shared.com/doc/KjwHw3YN/preview_html_7870e7d8.png
Bowen, R. (2006). Absorption of Monosaccharides. Vivo.colostate.edu. Retrieved 8
August 2014, from
http://www.vivo.colostate.edu/hbooks/pathphys/digestion/smallgut/absorb_sug
ars.html
Chhabra, N. (2012). Retrieved from http://www.namrata.co/wpcontent/uploads/2012/08/g31.png
Harvey, R., & Ferrier, D. (2011). Lippincott's illustrated reviews, biochemistry (1st
ed.). Philadelphia: Wolters Kluwer Health.
Shils, M., & Shike, M. (2006). Modern nutrition in health and disease (1st ed.).
Philadelphia: Lippincott Williams & Wilkins.