Biochemistry 1

C ATA N D U A N E S S TAT E U N I V E R S I T Y

Homocystinuria

A Biochemistry I Report
 Topics for discussion

Core Concepts
Genetic Disorder
Homocystinuria
Symptoms
Cause
Diagnosis
Treatment

Biochemistry 1
Defining Genetic Disorder

A genetic disorder is a category of diseases

that includes certain types of birth defects,
chronic diseases, developmental problems,
and sensory deficits that are inherited from
one or both parents.
 Biochemistry 1
Homocystinuria
also called cystathionine beta-synthase or CBS
deficiency is characterized by too much of the amino
acid homocysteine in the blood and urine.
CBS deficiency usually occurs when there is a
problem with one of the enzymes involved in
converting the amino acid methionine into the amino
acid cysteine, resulting in a build-up of methionine
and homocysteine and decreased production of
cysteine.

a brief description about Homocystinuria

 Methionine Metabolic Pathway
Methionine metabolic pathway showing the folate dependent conversion of methionine to homocysteine
and the subsequent conversion of homocysteine to cystathionine, which is facilitated by the cystathionine
beta-synthase enzyme. Disruptions of the function of this enzyme can lead to homocystinuria.
 Methionine Metabolic Pathway
Terminology

Methionine Homocysteine Cysteine

unique sulfur-containing amino
acid that can be used to build
proteins and produce many
molecules in the body.
is a type of amino acid, a a non-essential amino acid
chemical your body uses to important for making protein,
make proteins. and for other metabolic
functions. It's found in beta-
keratin.
 Infants After Age 3
Generalized Symptoms Specific Symptoms

• slow growth • Lenses Dislocating or • Vision loss form nerve

• low weight gain Becoming Cloudy damage
• possible developmental • Severe Nearsightedness • Severe headache
delays • Quivering of the Iris • Blurry Visions

Signs and Symptoms

Early and Later Signs of Homocystinuria
 Skeletal Abnormalities
• having long, lanky limbs and
knees that bend towards each
other when standing up
straight
Older individuals
• chest may also stick out more
than usual or cave inward.
• tend to experience a
decrease in bone density,
making it easier for their
bones to fracture.
• arch of the inside of the foot
may be high
 Blood Clots
Blood clots can also form at any age, causing the most
serious complications of CBS deficiency, depending on
the location of the clot. These complications include
strokes from clots in the brain and pulmonary embolism
from blood clots in the lungs.
Intellectual Disability
Individuals with homocystinuria may also have intellectual
disability or experience mental health conditions such as
anxiety, depression, and obsessive-compulsive disorder.

Anxiety Depression OCD

Pulmonary Embolism Stroke

 Homocystinuria is caused by mutations in the CBS gene and follows
autosomal recessive inheritance. An individual must inherit a copy of the
Mutated CBS gene from both parents to be affected by the disorder. A
Mutated CBS gene decreases the activity of the enzyme cystathionine

What Cause
beta-synthase or CBS. Without a properly functioning CBS enzyme,
methionine cannot easily be converted to cysteine, causing methionine

Homocystinuria?
and homocysteine to increase in the body. While cysteine levels remain
low. Altered concentrations of these amino acids can interfere with the
stability of important proteins in the skin, connective tissue, and other
proteins in the body, leading to problems such as skeletal abnormalities
and blood clots.

methionine +homocysteine
=
cysteine

Instability of important proteins in the

cystathionine beta- skin, connective tissue and other
synthase proteins in the body
=

Biochemistry 1 Mutated CBS gene Skeletal Abnormalites + Blood

Clot
Diagnosis
of Homocystinuria

Clinical Examination: Specialized Tests:

Blood and Urine Testing Genetic Testing
• patient's history • homocysteine • changes in the CBS gene
• methionine
• cysteine
• Evaluating signs
and symptoms
Severe Conditions:
• be diagnosed in newborn screening by
• Physical Exam testing for elevated methionine levels.
Supplemental VitaminB6
(pyridoxine)
assists in the conversion of
homocysteine to cysteine, so
increased B6 may lower
homocysteine levels.
Oral Medication Dietary Changes
oral medication called suggested minimizing the
betaine, which helps to consumption of proteins and
break down homocysteine if methionine
symptoms persist.

Treatment
reducing symptoms by regulating Homocysteine in Blood Plasma
 Definitio
nalso called
Homocystinuria,
A Recap about cystathionine beta-synthase
deficiency, causes increased
Homocystinuria homocysteine levels in the
blood, plasma, and urine.
Patholog
y mutations in
CBS is caused by
the gene which regulates
cystathionine beta-synthase.
Diagnosis includes a clinical
Biochemistry 1
examination followed by
specific blood plasma and
urine tests.
Symptoms
Symptoms vary significantly and
often cause eye problems such
as nearsightedness and in severe
forms can cause blood clots
leading to stroke.
Treatmen
t
The primary treatment is
vitamin B6, but other
treatments such as betaine
and a low protein diet might
also be needed.
Biochemistry 1

Online sources used

References
• osmosis.org
• https://medlineplus.gov/genetics/condition/homocystinuria/
• https://www.nhs.uk/conditions/homocystinuria
• https://www.healthline.com/health/homocystinuria
• https://www.webmd.com/children/what-is-homocystinuria