GALACTOSEMIA

A Report Prepared By Group V

 WHAT IS
GALACTOSE
MIA?
 GALACTOS
E
• is a monosaccharide which is
an epimer of glucose

• can exist in two different

stereoisomeric forms; α-D-
galactose and β-D-galactose.
3
 the milk sugar, lactose, is hydrolyzed in
the intestine to its constituent
monosaccharides, glucose and galactose
.
GALACTOSE
METABOLISM
  predominant route of galactose
metabolism

 named after Luis Federico Leloir

Leloir consists of three enzymes:

Pathway 1) galactokinase (GALK)
2) galactose-1-phosphate
uridyltransferase (GALT)
3) UDP-galactose 4′-epimerase
(GALE)
6
Conversion
of α-D-
galactose to
β-D-galactose
 α-form is that which
is metabolized in the
Leloir pathway

ENZYME: galactose
mutarotase
7
Phosphorylati
on of
galactose

8
Formation of UDP-
galactose

9
Conversion
of UDP-
galactose to
UDP-
glucose
10
DIFFERENT
METABOLIC
REACTIONS
Converted to glucose

12
Becomes part of lactose

13
Becomes part of
galactolipid

14
Oxidized as source of
energy

15
Disorders of
Galactose
Metabolism
WHAT IS
GALACTOSE
MIA?
• Galactosemia, which means “galactose in
the blood,” refers to a group
of inherited disorders that impair the body's
ability to process and produce energy from
a sugar called galactose. When people with
galactosemia injest foods or liquids
containing galactose, undigested sugars
build up in the blood.
17
 TYPES OF
GALACTOSEMIA
1 2 3

Classic Galactosemia Galactosemia

Galactosemia II III

18
 TYPE ENZYME CLINICAL MOLECULAR BASIS
DEFICIENT MANIFESTATION

CLASSIC GALT Galactosemia Galactosemia and galactosuria, liver damage, severe

GALACTOSEMIA mental retardation: Accumulation of Gal 1-phosphate;
amount of galactose also increases
Galactosuria
Cataracts: galactose accumulation builds up in the
Jaundice circulation and enters the lens of the eye. When
galactose levels are high, aldose reductase catalyze the
reaction to form galactitol from galactose.
Liver damage
Hypoglycemia: Due to the inhibition of
phosphoglucomutase.
Cataracts
Vomiting: Bactericidal activity of WBCis adversely
Vomiting affected – development of bacterial infection, then
overgrowth. Then formation of gas.

Hypoglycemia
19
 TYPE ENZYME CLINICAL MOLECULAR BASIS
DEFICIENT MANIFESTATION

GALACTOSEMIA GALK Galactosemia Galactosemia and galactosuria, liver damage, severe mental
retardation: Accumulation of galactose in blood and urine since
TYPE II there is no enzyme that will convert galactose into galactose 1-
Galactosuria phosphate.

Cataracts: galactose accumulation builds up in the circulation and

Cataracts enters the lens of the eye. When galactose levels are high, aldose
reductase catalyze the reaction to form galactitol from galactose.

20
 TYPE ENZYME CLINICAL MOLECULAR BASIS
DEFICIENT MANIFESTATION

GALACTOSEMIA GALE Cataracts Cataracts: galactose accumulation builds up in the

TYPE III circulation and enters the lens of the eye. When
galactose levels are high, aldose reductase catalyze the
Vomiting
reaction to form galactitol from galactose.

Vomiting: Bactericidal activity of WBC is adversely

affected – development of bacterial infection, then
overgrowth. Then formation of gas.

21
Diagnostic
Evaluation
 Newborn Screening Test
(R.A. 9288)
- Phenylketonuria (PKU)
- Congenital Hyperthyroidism
- Galactosemia
- Sickle Cell Disease
- Congenital Adrenal Hyperplasia
- Maple Syrup Urine Disease
24
 By year 2025, all Filipino newborns are
screened for the more common and life-
threatening congenital metabolic
disorders.
Screened Confirmed Prevalence

Galactosemia 8 964 626 113 1: 79 332

Heel Prick Method

 Presence or Absence of
Galactose-1- Phosphate
Concentration (Gal-1-P) and
Galactose -1-Phosphate
Uridyltransferase (GALT)

26
27
28
Beutler’s Test
“Fluorescent spot test”
Fluorometric assays use a difference in
the fluorescence of substrate from
product to measure the enzyme
reaction.
No fluorescence = (+) Galactosemia 29
30
Treatment
 Treatments
-Read food labels to
-No specific
check for
treatment 1 2 presence of lactose

-Eliminate breast
milk and lactose 3 4 -Calcium
containing formula Supplements
milk

32
 Milk and all dairy products
Lactose and Processed and pre-packaged foods

galactose- often contain lactose

Tomato sauces
free diet Some candies
Certain medications – tablets,
capsules, sweetened liquid drops that
contain lactose as a filler
Some fruits and vegetables also
contain galactose
Any foods or drugs which contain the
ingredients lactulose, casein,
caseinate, lactalbumin, curds, whey, or
whey solids.
33
 Adult
Galactosemic
Patients
Isselbacher, K. J. (1959). Galactose
metabolism and galactosemia. The
American Journal of Medicine, 26(5)
When one administers galactose to a galactosemic patient, from 30
to 80 per cent of the ingested galactose is retained and not
accounted for by the urinary excretion of the sugar.
the enzyme UDP-Galactose pyrophosphorylase could function in
such a manner and allow for the further metabolism of galactose-l-
phosphate and its incorporation into UDP-Galactose.
this enzyme has been observed to be weak in fetal and neonatal
tissue but to increase in activity with the age of the organism

35
Isselbacher, K. J. (1959). Galactose
metabolism and galactosemia. The
American Journal of Medicine, 26(5)

Galactosemia have their most pronounced symptoms at birth

because at this time Gal-l-P uridyl transferase is absent and in
addition UDP-Galactose pyrophosphorylase activity is weak
The subsequent increase in activity of the latter enzyme with age
could then account for the improvement in galactose tolerance and
utilization which occurs as the patient matures.

36