The document provides information about carbohydrate chemistry from a lecture. It defines carbohydrates and discusses their classification into monosaccharides, disaccharides, and polysaccharides. It describes the monosaccharide glucose in depth, including its structure, properties, biological functions as an important energy source, and relationship to disorders like diabetes. Additionally, it covers other major monosaccharides like fructose and galactose, along with derivatives and important reactions of monosaccharides.

1. Carbohydrate Chemistry
lecture 1
Prof. Aparna Misra
Biochemistry

2. Learning Objectives
Carbohydrate Chemistry (Lecture 1)
By the end of the lecture, the student should
know:
Definition of carbohydrates.
Classification
Monosacharide,Properties & classification
The functions and biological importance of
monosaccharides

3. Definition
Poly hydroxy Aldehyde or poly
hydroxy ketones & the substances
that will yield such substances on
hydrolysis.

4. Carbohydrates Contain the Elements:
Carbon
Hydrogen
Oxygen
They Are Split Into Three Groups Known
As:
Monosaccharides(Monomers)
Disaccharides(Dimers)
Polysaccharides(Polymers)

5.  Many carbohydrates are soluble in
water.
 The usual chemical test for the simpler
carbohydrates is heating with
Benedicts solution.
 The formula for a carbohydrate is
(CH2O)n
 The n represents the number of times
the CH2O unite is repeated.

6. Biological Importance
Energy source.
Structural component.
Synthetic property.
Storage function.

7. . ROLE OF CARBOHYDRATES
• As a major energy source for living organisms
(glucose is a principal energy source in animal
and plants)
• As a means of transporting energy ( exp: sucrose
in plant tissues)
• As a structural material ( cellulose in plants,
chitin in insects, building blocks of nucleotides).
• As a precursor for other biomolecules (purine,
pyrimide)

8. SIGNIFICANCE OF CARBOHYDRATES
• Carbohydrates are the most abundant bio-
molecules in nature, having a direct link between
solar energy and the chemical bond energy in living
organisms.
• Source of rapid energy production
• Structural building blocks of cells
• Components of several metabolic pathways
• Recognition of cellular phenomena, such as cell
recognition and binding (e.g., by other cells, hormones,
and viruses)

9. Classification
• Monosaccharide.
• Disaccharide.
• Polysaccharides.

10. cellulose, chitin,cellulose, chitin,
starch, glycogen,starch, glycogen,
glucoaminoglycansglucoaminoglycans
disaccharidesdisaccharides
GlycoproteinsGlycoproteins
(bacterial cell(bacterial cell
wallswalls
Carbohydrate
MonoMono
saccharidesaccharide
OligoOligo
saccharidesaccharide
PolyPoly
saccharidesaccharide
GlyconoconjugatesGlyconoconjugates
Glucose, fructose
Ribose (aldopentose)
Deoxy ribose
glycoproteins
and
proteoglycans

11. Monosaccharide
Definition
• The simplest form
carbohydrate that can not be
hydrolyzed to simpler form.
• Example---Glucose.

12.  COLORLESS, CRYSTALLINE SOLIDS
SOLUBLE IN WATER BUT INSOLUBLE IN NONPOLAR
SOLVENTS
ONE OF THE CARBON ATOMS IS DOUBLE-BONDED TO AN
OXYGEN ATOM TO FORM A CARBONYL GROUP; EACH OF
THE OTHER CARBON ATOMS HAS A HYDROXYL GROUP.
CARBOHYDRATES WITH AN ALDEHYDE (-CHO)
FUNCTIONAL GROUP ARE CALLED ALDOSES E.G.
GLYCERALDEHYDE (CH2OH-CHOH-CHO)
THOSE WITH A KETO GROUP (-C=O) ARE KETOSES
E.G.DIHYDROXYACETONE (CH2OH-C=O-CH2OH)
CLASSIFIED ACCORDING TO THE NUMBER OF CARBON
ATOMS THEY CONTAIN
Monosacharides Properties& classification

13. Classification of monosaccharides
• According to number of carbon atoms–
Trioses, Tetroses, Pentoses, hexoses,
Heptoses & Octoses.
• According to functional group- Aldoses
and ketoses.

15. SUMMARY OF SUGAR STRUCTURES
ISOMERS- compounds that have the same chemical
formula e.g. fructose, glucose, mannose, and galactose are
isomers of each other having formula C6H12O6.
EPIMERS- refer to sugars whose configuration differ
around one specific carbon atom e.g. glucose and galactose
are C-4 epimers and glucose and mannose are C-2 epimers.
ENANTIOMERS- a special type of isomerism found in
pairs of structures that are mirror images of each other. The
mirror images are termed as enantiomers and the two
members are designated as D- and L- sugar. The vast
majority of sugars in humans are D-sugars.

16. Stereoisomerism
• Carbon containing molecules with same
chemical structure but different spatial
arrangement.
• Asymmetric carbon atom--A carbon atom
with 4 different groups.
• A molecule with one asymmetric carbon can
have 2 stereoisomer.

17. D & L sugars
Found in a pair of sugars that are
mirror images to each other.
They differ in orientation of H & OH
groups in the penultimate carbon atom.
The reference molecules are D-
glyceraldehydes.

18. Pyranoses & Furanoses.
• In aqueous solution common
monosaccharides have cyclic structure.
• These cyclic structures will have an additional
asymmetric carbon & can exist in two
stereoisomeric forms.
• They are alpha & beta anomers.

20. Anomers
• Isomers of monosaccharides that differs
only in their configuration around carbon
number 1.
• Example-- alpha D & beta D Glucose.

22. Mutarotation
• Alpha &beta anomers of Glucose will inter
convert in solution by a process called
Mutarotation.
• A solution of alpha D & beta D glucose
will form an equilibrium mixture of 1/3
alpha and 2/3 beta glucose.

24. Major Monosaccharides.
• Glucose.
• Fructose.
• Mannose.
• Galactose.
• Ribose.
• Deoxyribose.
• Erythrose.
• Glyceraldehyde.
• Dihydroxyacetone.

25. Monosaccharide derivatives.
• Sugar acids– Gluconic acid, Glucuronic acid,
Gluccharic acid.
• Sugar alcohol.– Sorbitol, Mannitol,
• Sugar phosphates.– Glucose 6 phosphate.
• Deoxy sugar– Deoxyribose.
• Amino sugar.– Hexosamines.
• Sialic acid.– N acetyl neuraminic acid.

26. IMPORTANT REACTIONS INMONOSACCHARIDESIMPORTANT REACTIONS INMONOSACCHARIDES
Monosaccharides undergo the followingMonosaccharides undergo the following
reactions :reactions :
1.1.OxidationOxidation
2.2.ReductionReduction
3.3.IsomerizationIsomerization
4.4.EsterificationEsterification
5.5.Glycoside formationGlycoside formation
6.6.MutarotationMutarotation

27. IMPORTANCE OF MONOSACCHARIDES: GLUCOSE
 THE STORAGE FORM OF GLUCOSE IN HUMANS IS
GLYCOGEN
 IN PLANTS IT IS STORED MAINLY IN THE FORM
OF STARCH.
DIETARY SOURCES: FRUITS, VEGETABLES(IN THE
FORM OF STARCH), HONEY

28. BIOLOGICAL SIGNIFICANCE
 BRAIN CELLS, RBCS AND THE GROWING
EMBRYO ONLY UTILIZE GLUCOSE AS A SOURCE
OF ENERGY.
 ENERGY SOURCE FOR CELLS IN THE BODY.
 BUILDING BLOCK OF DISACCHARIDES AND
POLYSACHHARIDES
 IT IS THE SUGAR PRESENT IN BLOOD

29. IMPORTANT MONOSACCHARIDES
• GLUCOSE
• FRUCTOSE
• GALACTOSE
D-Glucose:D-Glucose:
D-glucose (dextrose) is the primary fuel in living cells
especially in brain cells that have few or no
mitochondria.
Cells such as eyeballs have limited oxygen supply and
use large amount of glucose to generate energy
Dietary sources include plant starch, and the
disaccharides lactose, maltose, and sucrose

30. DISORDERS ASSOCIATED WITH GLUCOSE
 DIABETES MELLITUS
 GLYCOSURIA
 RENAL SUGAR THRESHOLD IT IS THE MAXIMUM
CAPACITY OF KIDNEYS TO REABSORB GLUCOSE.

31. DIABETES (diabetes mellitus)
1. Characterized by high blood glucose levels that splills
over into the urine
2. These high glucose levels impairs the insulin-
stimulated glucose entry into cells and starve the cells
of insulin.
3. This leads to ketosis or high levels of ketone bodies
(acids) that hinders the buffering capacity of the blood
in the kidney, which controls blood pH (by excreting
excess H+ ions into the urine).
4. The H+ excretion is accompanied by the excretion
ammonia, sodium,potassium, and phosphate ions
causing severe dehydration
5. This leads to excessive thirst symptom of diabetes and
life-threatening decrease in blood volume.

32. FRUCTOSE: IMPORTANCE AND BIOLOGICAL
SIGNIFICANCE
DIETARY SOURCES: FRUIT JUICES, HONEY AND
SUGAR CANE.
 SWEETEST SUGAR
 SEMINAL FLUID IS RICH IN FRUCTOSE.
 SPERM UTILIZES FRUCTOSE FOR ENERGY
 IN THE SEMINIFEROUS TUBULAR EPITHELIAL CELLS,
FRUCTOSE IS FORMED FROM GLUCOSE.

33. GALACTOSE: IMPORTANCE AND BIOLOGICAL
SIGNIFICANCE
DIETARY SOURCE: DIARY PRODUCTS
 LESS SWEET THAN GLUCOSE
 USED IN THE SYNTHESIS OF MILK SUGAR IN
MAMMARY GLANDS
 IT IS A CONSTITUENT OF GLYCOLIPIDS AND
GLYCOPROTEINS
 IT IS REQUIRED FOR THE DEVELOPMENT OF
BRAIN AND NERVOUS TISSUE IN INFANTS.

34. MANNOSE
 IT DOES NOT OCCUR FREE IN NATURE
 IN THE HUMAN BODY, IT IS FOUND AS A
CONSITUENT OF GLYCOPROTEINS
 ITS REDUCTION PRODUCT THAT IS MANNITOL
IS IMPORTANT CLINICALLY IN CEREBRAL
EDEMA.

35. MONOSACCHARIDE DERVATIVES
• URONIC ACIDS – formed when terminal CH2OH
group of a mono sugar is oxidised
– Important acids in animals – D-glucuronic acid and
its epimer L-iduronic acid
– In liver cells glucuronic acid combines with
steroids, certain drugs, and bilirubin to improve
water solubility therby helping the removal of
waste products from the body
– These acids are abundant in the connective tissue
carbohydrate components.

36. Mono sugar derivatives
• AMINO SUGARS –
– Sugars in which a hydroxyl group (common on
carbon 2) is replaced by an amino group e.g. D-
glucosamine and D-galactosamine
– common constituents of complex carbohydrate
molecule found attached to cellular proteins and
lipids
– Amino acids are often acetylated e.g. N-acetyl-
glucosamine.

37. Mono sugar derivatives
• DEOXYSUGARS
– monosaccharides in which an - H has replaced an –
OH group
– Important sugars: L-fucose (formed from D-
mannose by reduction reactions) and 2-deoxy-D-
ribose
– L-fucose – found among carbohydrate components
of glycoproteins, such as those of the ABO blood
group determinates on the surface of red blood cells
– 2-deoxyribose is the pentose sugar component of
DNA.

38. IMPORTANCE OF PENTOSES
 RIBOSE: IT IS A CONSTITUENT OF NUCLEIC
ACID THAT IS RNA
 2-DEOXYRIBOSE: IT IS A CONSTITUENT OF
DNA

39. GLYCOSIDES
• Monosaccharides can be linked by glycosidic bonds (joining of
2 hydroxyl groups of sugars by splitting out water molecule)
to create larger structures.
• Disaccharides contain 2 monosaccharides e.g. lactose
(galactose+glucose); maltose (glucose+glucose);
sucrose (glucose+fructose)
• Oligosaccharides – 3 to 12 monosaccharides units e.g.
glycoproteins
• Polysaccharides – more than 12 monosaccharides units e.g.
glycogen (homopolysaccharide) having hundreds of sugar
units; glycosaminoglycans (heteropolysaccharides) containing
a number of different monosaccharides species.

40. Disaccharides.
Lactose – Galactose + Glucose.
maltose– Glucose + Glucose.
Sucrose – Glucose +Fructose.

41. DISACCHARIDES AND OLIGOSACCHARIDES
• Configurations: alfa or beta ( 1,4, glycosidic
bonds or linkages; other linkages 1,1; 1,2; 1,3;
1,6)
• Digestion aided by enzymes. Defficiency of any
one enzyme causes unpleasant symptoms
(fermentation) in colon produces gas [bloating
of cramps].
• Most common defficiency, an ancestoral
disorder, lactose intolerance caused by reduced
synthesis of lactase

42. Important sugars of Disaccharides
• LACTOSE
(milk sugar) disaccharide found in milk; composed of one
molecule of galactose and glucose linked through beta(1,4)
glycosidic linkage; because of the hemiacetal group of the
glucose component, lactose is a reducing sugar

43. LACTOSE
Also called milk sugar because it naturally
occurs only in milk.
 On hydrolysis it yields one molecule of
glucose and one molecule of galactose which
are linked together through 1-4 glycosidic
linkage
 Two Monomer Units of Lactose are:-
 Glucose.
 Galactose.

44. LACTOSE
Also called milk sugar because it naturally
occurs only in milk.
 On hydrolysis it yields one molecule of
glucose and one molecule of galactose which
are linked together through 1-4 glycosidic
linkage
 Two Monomer Units of Lactose are:-
 Glucose.
 Galactose.

45. Lactose intolerance
• Lactose (milk sugar) in infants is hydrolyzed by
intestinal enzyme lactase to its component
monosacch for absorption into the bloodstream
(galactose epimerized to glucose).
• Most adult mammals have low levels of beta-
galactosidase. Hence, much of the lactose they
ingest moves to the colon, where bacterial
fermentation generates large quantities of CO2, H2
and irritating organic acids.
• These products cause painful digestive upset known
as lactose intolerance and is common in the African
and Asian decent.

46. SUCROSE
 It is common table sugar.  Mainly found in
Sugar Cane.
 It has 1,2 glycosidic linkage.
 Two Monomer Units of Sucrose are:-
 Glucose.
 Fructose.
 CLINICAL SIGNIFICANCE: Small amounts of
oral sucrose placed in the infant's mouth
reduces procedural pain.

47. MALTOSE
 YIELDS UPON THE HYDROLYSIS OF
STARCH(AMYLASE)
 MADE UP OF TWO MOLECULES OF GLUCOSE
 GLYCOSIDIC LINKAGE(1,4) CLINICAL
SIGNIFICANCE:
 MALTASE IS DIGESTED BY THE ENZYME
MALTASE. BABY FOODS CONTAIN MALTOSE
BECAUSE IT IS EASILY DIGESTED.

48. • CELLOBIOSE
degradation product of cellulose containing
two molecules of glucose linked by a beta
(1,4) glycosidic bond; it does not occur freely
in nature

49. OLIGOSACCHARIDE SUGARS
• Oligosaccharides are small polymers often
found attached to polypeptides in
glycoproteins and some glycolipids.
• They are attached to membrane and secretory
proteins found in endoplasmic reticulum and
Golgi complex of various cells
• Two classes: N-linked and O-linked

53. Case study
• A 20-year old man presents at medical OPD in
a hospital with a complaint of abdominal
discomfort, diarrhoea and muscle cramps.
From the case history, it appears that he had
consumed a large quantity of milk and other
diary product for three days on festive
occasion. The house- surgeon who examined
him , advised to avoid milk and milk products.
The patient followed this advice and became
normal in two days.

54. Glycosidic Bonds
• Hydroxyl group (OH) of anomeric carbon of a
monosaccharide reacts with a hydroxyl group
of another monosaccharide or a non-
carbohydrate to form a glycosidic bond
• OH +H=H2O

55. Polysaccharides
Composed of large number of monosaccharide
units connected by glycosidic linkage
Contain >10 monosaccharide units.
Also called Glycans.
Polysaccharides are more hydrophobic if they
have a greater number of internal hydrogen
bonds, and as their hydrophobicity increases
there is less direct interaction with water

56. Classification of Polysaccharides

57. Homopolysaccharides
• -made up of single variety of monosaccharide
• - some acts as storage form of fuel
• Found in abundance in nature
• Important examples: starch, glycogen,
cellulose, and chitin

58. HOMOSACCHARIDES
• Starch, glycogen, and cellulose all yield D-glucose
when they are hydrolyzed
• Cellulose - primary component of plant cells
• Chitin – principal structural component of
exoskeletons of arthropods and cell walls of many
fungi; yield glucose derivative N-acetyl glucosamine
when it is hydrolyzed.

59. STARCH (Homosaccharide)
• A naturally abundant nutrient carbohydrate, found chiefly in
the seeds, fruits, tubers, roots, and stem pith of plants,
notably in corn, potatoes, wheat, and rice,
• Two polysaccharides occur together in starch: amylose and
amylopectin
• Amylose – unbranched chains of D-glucose residues linked
with alfa(1,4,)glycosidic bonds
• Amylopectin – a branched polymer containing both alfa(1,4,)
and alfa(1,6) glcosidic linkages; the alfa(1,6) branch points
may occur every 20-25 glucose residues to prevent helix
formation
• Starch digestion begins in the mouth; alfa-amylase in the
saliva initiates hydrolysis of the gycosidic linkages

61. Starch is digested by pancreatic amylasein
the intestine
Amylase
•Starch → → Dextrins → Maltose and Isomaltose
Maltase
→ → → Glucose → Absorbed through intestinal
isomaltose
wall

62. Glycogen
• Glycogen is the storage form of carbohydrate
in animal.
• It is stored in muscle and in liver.
• Composed of glucose units linked by α-(1-4)
and α-(1-6)glycosidic bonds
• Similar to amylopectin except more branching
in glycogen
• The interior core portion contains a primer
molecule known as glycogenin

65. CELLULOSE (Homosaccharide)
• Cellulose is found in plants as microfibrils (2-20 nm
diameter and 100 - 40 000 nm long). These form the
structurally strong framework in the cell walls.
• Cellulose is mostly prepared from wood pulp
• Cellulose is a linear polymer of β-(1 4)-D-glucopyranose
units in 4
C1 conformation. The fully equatorial
conformation of β-linked glucopyranose residues
stabilizes the chair structure, minimizing its flexibility

66. Cellulose has many uses as an anticake agent, emulsifier,
stabilizer, dispersing agent, thickener, and gelling agent
but these are generally subsidiary to its most important
use of holding on to water.
Water cannot penetrate crystalline cellulose but dry
amorphous cellulose absorbs water becoming soft and
flexible.
Purified cellulose is used as the base material for a
number of water-soluble derivatives e.g. Methyl cellulose,
carbomethycellulose

68. CELLULOSE
ᵦ- amylase cellobiase
cellulose→ → →cellobiose → → →ᵦ-D-glucose

69. CHITIN (Homosaccharide)
• Chitin is a polymer that can be found in
anything from the shells of beetlesto webs of
spiders. It is present all around us, in plant and
animal creatures.
• It is sometimes considered to be a spinoff of
cellulose, because the two are very
molecularly similar.
• Cellulose contains a hydroxy group, and chitin
contains acetamide.

70. Chitin is unusual because it is a "natural
polymer," or a combination of elements that
exists naturally on earth.
Usually, polymers are man-made. Crabs,
beetles, worms and mushrooms contain
large amount of chitin.
Chitin is a very firm material, and it help
protect an insect against harm and pressure

71. Structure of the chitin molecule, showing two of the N-
acetylglucosamine units that repeat to form long chains in beta-
1,4 linkage.

72. CHITOSAN
• This is a man-made molecule that is often used to dye
shirts and jeans in the clothing industry.
• Chitosan can be used within the human body to
regulate diet programs, and researchers are looking
into ways in which it can sure diseases.
• Chitin, the polysaccharide polymer from which
chitosan is derived, is a cellulose-like polymer
consisting mainly of unbranched chains of N-acetyl-D-
glucosamine. Deacetylated chitin, or chitosan, is
comprised of chains of D-glucosamine. When ingested,
chitosan can be considered a dietary fiber.

73. CHEMICAL STRUCTURE OF CHITOSAN

74. HETEROPOLYSACCHARIDES
• Are high-molecular-weight carbohydrate polymers
more than one kind of mono-saccharide
• Important examples include glycosaminoglycans
(GAGs) – the principle components of
proteoglycans and murein, a major component of
bacterial cell walls.

75. GAGs - high-molecular-weight carbohydrate
polymers
• Glycosaminoglycans forming the proteoglycans are the
most abundant heteropolysaccharides in the body.
They are long unbranched molecules containing a
repeating disaccharide unit. Usually one sugar is an
uronic acid (either D-glucuronic or L-iduronic) and the
other is either GlcNAc or GalNAc. One or both sugars
contain sulfate groups (the only exception is hyaluronic
acid).
• GAGs are highly negatively charged what is essential for
their function.

76. THE SPECIFIC GAGs OF PHYSIOLOGICAL
SIGNIFICANCE
 Hyaluronic acid
 Chondroitin sulphates
 Keratan sulphates
 Heparin and heparin sulphates
 Dermatan sulphate

77. Hyaluronic acid (lubricant)
•
Occurence : synovial fluid, ECM of loose connective
tissue
Hyaluronic acid is unique among the GAGs because
it does not contain any sulfate and is not found
covalently attached to proteins.
It forms non-covalently linked complexes with
proteoglycans in the ECM.
Hyaluronic acid polymers are very large (100 -
10,000 kD) and can displace a large volume of
water.

78. Hyaluronic Acid.
Alternating N Acetyl glucosamines & D
Glucuronic acid in beta 1—3 linkage.
Present in synovial fluid of joints,
vitreous humor of eyes, cartilages & tendons.
Hyaluronidase –an enzyme present in some
bacteria can hydrolyze H.A.

80. Chondroitin sulphate
• Glucuronic acid and N acetyl
galactosamine in beta 1-3 linkage.
• Present in cartilages ,tendons,
ligaments and walls of arteries.

82. Keratan sulphate 1&2
• Galactose & GalNac in beta 1-4 linkage.
• No uronic acid.
• Present in cornea, cartilage, bone, hair and
nails.

84. Heparan sulphate
• Structurally similar to heparin but lower
density of sulphate.
• Present in basement membrane of
tissues and cell membrane.

86. Dermatan sulphate
• Iduronic acid and GalNac in beta 1—3
linkage.
• Present in skin ,blood vessels, cornea,
sclera and heart valves.
• Responsible to maintain the shape of
eyeball

88. Glycoconjugates
• Information- rich molecules
• Play vital role in protein targeting
(carrying newly synthesised proteins to their
destinations)
• Act as mediators of cell to cell interactions
and communication between cells and
extracellular matrix.
• Eg. Proteoglycans, glycoproteins and glycoconjugates

89. Proteoglycans.
• Gags joined covalently with proteins.
• Contains up to 95% of carbohydrate.
• Major component of connective tissue, for
example cartilages.

90. Glycoprotein.
• Protein and oligosaccharide.
• Up to 70% carbohydrate.
• Immunoglobulins, Plasma protein,
Hormones, Receptors , blood group
substances are examples.

91. Glycolipids
Mostly occurs as gangliosides which occur
in nervous tissues

92. Mucopolysaccharidoses.
• A group of hereditary diseases caused by
disorders of proteoglycan metabolism.
• SS---coarse facial features, thick skin,
corneal opacity.
• Examples—Hurler’ syndrome, Hunter’
syndrome.

93. Genetic disorders
Deficiency of enzymes necessary to
breakdown mucopolysaccharides (MPS)
Excessive accumulation of
mucopolysaccharides in body tissues
MUCOPOLYSACCHARIDOSES
93

94. Results:
many serious physical disorders
Various genetic deformities such as:
skeletal deformities (especially of the face)
mental retardation
decreased life expectancy
MUCOPOLYSACCHARIDOSES
94

95. Hunter syndrome
Hurler syndrome
Scheie syndrome
Sanfilippo syndrome
Morquio disease
Maroteaux-Lamy syndrome
EXAMPLES
95

96. Definition
An inherited disease (AR)
Storage of abnormal quantities
of this material
(mucopolysaccharide) in different
body tissues is responsible for
the symptoms and appearance of
the disease
HURLER SYNDROME
TYPE I
96

97. 97
Hurler syndrome (typeHurler syndrome (type
II((

98. 98
Hurler syndrome type IHurler syndrome type I

99. 99
Key Symptom Images
Hernia Corneal
clouding
Coarse
facial
features
Claw hand
Mucopolysaccharidosis I (MPS I( DiseaseMucopolysaccharidosis I (MPS I( Disease
((Hurler, Hurler-Scheie, Scheie SyndromesHurler, Hurler-Scheie, Scheie Syndromes((

100. Inherited as an autosomal recessive trait
Metabolic defect: inability
The body's to make an enzyme:
lysosomal alpha-L-iduronase
CAUSES OF THE HURLER SYNDROME
100

101. Approximately 1 in 150,000 infants are
affected
Newborn infants with this defect appear normal
at birth
By the end of the first year, signs of impending
problems begin to develop
INCIDENCE & AND RISK FACTORS
101

102. The children slowly develop
Coarse, thick, facial features
Prominent dark eyebrows
Progressive stiffness
Mental retardation
MPS (TYPE I)
102

103. Genetic counseling: important for parents
with a family history of Hurler syndrome
Prenatal diagnosis:
An amniocentesis in the amniotic fluid are
then cultured and the a-L-iduronidase
activity in the cells is determined.
PREVENTION
103

104. Short stature
Severe mental retardation
Thick, coarse facial features with low
nasal bridge
Full lips with a thick, large tongue
Increased body hair (hirsutism)
SYMPTOMS
104

105. Umbilical hernia
Deafness
Stiffness (in joints)
Shortness of breath
Abnormal bones of spine and claw
hand
SYMPTOMS
105

106. 106
MPS: SIGNS
Hepatomegaly
Splenomegaly
Enlarged tongue
Retinal pigmentation
Hip dislocation
Kyphosis
Heart murmurs
Heart valve damage from thickening

107. Increased excretion of dermatan
sulfate and heparan sulfate in the
urine
Absence of lysosomal alpha-L-
iduronidase (in cultured fibroblasts)
Culture of cells from amniotic fluid
obtained by amniocentesis for
enzyme testing (prenatal testing)
TESTS THAT MAY INDICATE THE SYNDROME
107

108. Abnormal histological staining of
white blood cells called
metachromasia
X-ray of the skeleten
X-ray of the spine
X-ray of the chest
ECG
TESTS THAT MAY INDICATE THE
SYNDROME
108

109. HUNTER SYNDROME
TYPE II
109

110. 110
Hunter syndrome type IIHunter syndrome type II

111. X-linked
Coarse, thick, facial features
Progressive stiffness
decreased mental development
Hepatomegaly (liver enlargement)
Splenomegaly (spleen enlargement)
Abnormal bone x-rays
HUNTER SYNDROME TYPE II
(SULPHO-IDORONIDE SULPHATASE
DEFICIENCY )
111