DISEASE FOR RESEARCH:

ALKAPTUNOR
IA
BLACK URINE DISEASE
-AARYA SINGH BHADOURIA
XI B
 CERTIFICATE
This is to certify that I, Aarya Singh Bhadouria of class XI of
Bal Bharati Public school, Noida has successfully completed
the biology investigatory project as prescribed by Central
Board of Secondary Education for academic year 2023-24

VIDHI OBEROI ASHA PRABHAKAR

Teacher-in-charge Principal
 ACKNOWLEDGEMENT
I would like to express my special thanks of gratitude to
my biology teacher Mrs. Vidhi Oberoi for their able
guidance and support in completing my project.

VIDHI OBEROI ASHA PRABHAKAR

Teacher-in-charge Principal
TABLE OF CONTENTS

ABOUT THE DISEASE CASES WORLDWIDE

01 What is Alkaptunoria?
04 The case chart

CAUSES TREATMENT
02 05
Causes of Alkaptunoria Can it be prevented?

SYMPTOMS CASE STUDY

03 What are the symptoms of the 06 A study for the disease.
disease?
INTRODUCTION
Alkaptonuria also known as Black Urine disease is a rare
inherited genetic disease which is caused by a mutation in
the HGD gene for the enzyme homogentisate 1,2-
dioxygenase.
 0
ABOUT
1
THE
DISEASE
ALKAPTUNORIA
ABOUT THE DISEASE
if a person inherits an abnormal copy from both parents, the body
accumulates an intermediate substance called homogentisic acid in
the blood and tissues.

The accumulating homogentisic acid causes damage

to cartilage and heart valves, as well as precipitating as kidney
stones and stones in other organs.

Symptoms usually develop in people over 30 years old,

although the dark discoloration of the urine is present from
birth.
 CAUSES OF THE DISEASE
Alkaptonuria is caused by mutation of
the homogentisate 1,2-dioxygenase
(HGD) gene.
This enzyme helps break down the amino
acids phenylalanine and tyrosine, which
are important building blocks of proteins.
Excess homogentisic acid and related
compounds are deposited in connective
tissues, which causes cartilage and skin
to darken.
Over time, a build up of this
substance in the joints leads to
arthritis. Homogentisic acid is also
excreted in urine, making the urine
turn dark when exposed to air.
SYMPTOMS OF THE DISEASE
They'll have lower back pain and stiffness, followed by knee,
hip and shoulder pain. These are similar to the early symptoms
of osteoarthritis.

brown or black spots on the whites of their eyes ., thickening

02 of ear cartilage. The cartilage may also look blue, grey or

black. This is called ochronosis.

Darkening of urine, sweat and nails. The skin colour changes are most

04 obvious on areas exposed to the sun and where sweat glands are found –
the cheeks, forehead, armpits and genital area.

Deposits of homogentisic acid around heart valves can cause them to

03 narrow, harden and turn black. This can lead to heart disease and may
require heart valve replacements.
1233
U
AK
“Illness is the doctor to whom we pay most
heed, kindness and knowledge, we make
promise only, pain we obey”
—MARCEL PROUST
A PICTURE IS WORTH A THOUSAND
WORDS
TREATMENT

A medicine called nitisinone is If condition worsens,

used to slow the advance of replacement of heart
alkaptonuria in adults valves

Healthy Lifestyle
high-doses of vitamin C
In children and older
adults
CASE STUDY
Male patient, 52 years old, sought medical assistance complaining about
progressive appearance of hyperchromic papules on the lateral edge of
the second finger of both hands for a period of 2 years. He also
complained about darkening of urine, sperm and underwear for 20 years
with recent worsening. He is obese and hypertensive, currently using
enalapril. He already underwent some orthopedic procedures, such as:
knee arthroscopy, lumbar spine arthrodesis and achilles tendon
tenorrhaphy two, eight and fifteen years ago, respectively. According to
his family history his sister presented "Coca-Cola color" in her diapers,
during early childhood.
CASE STUDY
 The dermatological examination: grayish spot in the sclera, grayish blue
papules on the bilateral extensor surface of second finger, periurethral
hyperpigmentation, generalized chromonychia and ​Radiography of vertebral
column showed calcification of lower and lumbar intervertebral discs,
reduction of disc spaces and posterior arthrodesis with metal rod.
 With the goal of clarifying the diagnosis an incisional biopsy of the second
finger papule was performed as well as test for homogentisic acid in urine,
which resulted positive.
 Given these results, treatment with vitamin C 500 mg twice a day was started
together with monitoring by other specialties such as orthopedics,
ophthalmology and cardiology. The patient was advised to avoid diets rich in
phenylalanine, tyrosine and protein.
 CONCLUSION
Alkaptonuria is a very rare condition. Revealed by
its orthopedic features is exceptionally. The patients
generally needs articulations replacement and the
illness have no effect on its prognosis.
BIBLIOGRAPHY

● https://www.nhs.uk/conditions/alkaptonuria/
● https://rarediseases.org/rare-diseases/alkaptonuria/#therapi
es
● https://www.nhs.uk/conditions/alkaptonuria/
● https://medlineplus.gov/genetics/condition/alkaptonuria/
THANKS!
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