BIOCHEMISTRY ASSIGNMENT 1

TOPIC : DISEASES DESCRIPTION

SEMESTER : 3
SECTION: A
SAP ID: 39669
SUBMITTED BY :SYEDA UROOJ ZAHRA
SUBMITTED TO : MA’AM MAHAT ZAFAR

QUESTION :

 What are the syndromes due to deficiency of carbohydrate

metabolism (Hunter ,Hurler,Scheie,Sly’s and Sanfilippo
disease.)
1. Hunter disease:
Hunter syndrome is a lysosomal storage disease caused by a either a
deficiency or complete absence of the enzyme iduronate-2-sulfatase
(I2s).This enzyme is usually responsible forthe breakdown of
glycosaminoglycans (GAGS).The biochemistry of this syndrome
concerns a problem that occurs in the extracellular matrix,which
makes up part of the body’s connective tissue.
 Symptoms:
 Abdominal hernia
 Ear infections
 Runny nose
 Prominented forehead specifically in childrens
 Liver and spleen enlargement
 Diagnoses:
Characteristics changes in the facial features provide the main initial
warningthat a child may have a hunter syndrome.Further tests that are
carried out to confirm include blood,urine or tissue samples.

 Treatment:
There is no cure for the syndrome and treatment is aimed at
managing the condition so as to ease the symptoms and provide some
relief for the sufferer.This is referred to as palliative treatment and the
objective is to minimize negative effects on the bodily funtions as the
condition worsens.

2. Hurlers disease:
Hurlers syndrome is caused ny a deficiency of lysosomal enzyme
IUDA, which aids in the breakdown of dermatan sulfate and heparin
sulfate (GAG).This finally results in the accumulation of large amount
 of GAG in the body ,eventually causing the cells to become severly
dysfunctional leading to death.

 Symptoms :
 Frequent upper respiratory infections
 Enlarged tonsils and or adenoids
 Distinct facial features (coarse facial features)
 Hernias
 Clouding of the fronr part of the eye (corneal clouding)
 Diagnoses:
Diagnoses often can be made through clinical examination and urine
tests.

 Treatment :
Enzyme replacement therapy,bone marrow transplant,hematopoetic
stem cell transplant and targetted symptom management.

3. Scheie disease:
Mucopolysaccharidoses (MPSs) are group of rare diseases in which
the body is missing or does not have enough of an enzyme needed to
breakdown long chains of sugar molecules.
 Symptoms:
 Stiff joints
 Carpel tunnel syndrome
 Backward flow of blood into the heart(aortic regurgitation)
 Clouding of cornea
 Causes:
Mutation in IDUA gene (4p16.3) leading to partial deficieny in
alpha L- iduronidase enzyme and lysosomal accumulation of
dermatan sulfate and heparin sulfate.

 Treatment :
Bone marrow transplantation.

4. Sly’s disease:
Mucopolysaccharidosis VII is an autosomal recessive lysosomal
storage disorder (LSD) that is characterised by the deficiency of
activity of beta –glucoronidase 9GUS: beta –D- glucoronidase.
 Symptoms:
 Enlarged head fluid buildup in brain
 Coarse facial features
 Enlarged tongue
 Enlarged liver and spleen
 Abdominal hernias
 Diagnose :
Elevated levels of GAGS in urine. Prenatal testing.

 Treatment:
Vestronidase alfa –vjbk (trade name mepsevii),an enzyme
replacement therapy which is a recombinant form of human beta
glucoronidase.

5. Sanfilippo disease:
Also known as mucopolysacharidosis III is a rare inherited
disorder .sanfilippo syndrome is classified as a lysosomal storage
disorder.In this genetic variations disrupt the normal activity of
lysosomes in the human cells.
 Causes:
It is inherited in an autosomal recessive pattern which means that
the affected child has recieved one defective copy of gene resposible
for enzyme production from each of their parents.
 Symptoms:
 Delayed speech
 Developmental regression
 Intellectual disability
 Seizures
 Movement disorders
 Behavior problems
 Diagnoses:
Urine test

Other tests including measuring enzyme activity in blood or skin.

 Treatment:
Enzyme replacement therapy.

Thankyou !