Albinism is an inborn disorder characterized by a partial or complete lack of pigmentation in the skin, hair, and eyes. It is caused by an absence of the tyrosinase enzyme in melanocytes, which is required for synthesizing melanin pigment. Without this enzyme, people with albinism cannot produce melanin, resulting in white skin, hair, and irises. They are also more susceptible to sunburns, skin cancer, and photophobia due to the lack of protective melanin pigment. Albinism is an autosomal recessive genetic disorder.

1. Albinism
Isha Rani
Assistant Professor
MMCP, MMU

2. INTRODUCTION
 AMINO ACID:
Amino acids are building blocks of protein. Amino acid are
organic compound which contain amine and carboxyl as a
functional groups along with the side chain which specific for
each amino acids.

3. Metabolic disorders associated
with amino acids
 Albinism
 Alkaptonuria
 Phenylketonuria etc.

4. ALBINISM
 Albinism is a inborn disorder in which human have
complete or partial absence of pigment in skin, hair
and eyes. Due to lack of skin pigment the person get
more susceptible to sunburns and skin cancer. It is
chronic and rare disease. Albinism is an autosomal
recessive disorder.

5. History
 Balthazar Telez coined the term “albino”, meaning
white Negro, when he saw white African tribe
members along the coast of West Africa. He and the
other explorers thought they were seeing two different
races of people

6. CAUSE OF ALBINISM
 This is another inborn error of tyrosine metabolism
 It is due to absence of tyrosinase enzyme from
melanocytes
 This enzyme is required for synthesis of melanin

7.  Melanin is not synthesized in patients having albinism
 Their skin, hair and iris become white
 Such patients are called albinos

8.  Photophobia and skin hypersensitivity are common in
albinos
 The incidence of skin cancer is also high
 Goggles and sunscreen lotions can reduce the
discomfort

9. Two forms of Albinism
 Partial lack of melanin which is known as
hypomelanism or hypomelanosis.
 The total absence of melanin is known as amelanosis.

10. Melanin production pathway

11. References
 https://raredisease.info.nih.gov
 https://verywellhealth.com
 http://en.m.wikipidia.org
 http://www.ncbi.nim.nih.gov
 http://journals.plos.org
 Lehninger 5th edition
 Slideshare.net

12. Thank you