Which disease is characterized by the inability to synthesize melanin, leading to various skin and hair pigmentation issues?

• A. Cystic fibrosis
• B. Albinism
• C. Phenylketonuria
• D. Sickle cell disease

Answer: (B)

The correct response pertains to albinism, a genetic condition distinguished by a severe reduction or complete absence of melanin production in the body. Melanin is the pigment responsible for the color of skin, hair, and eyes. Individuals with albinism typically exhibit light or white skin and hair, along with a higher sensitivity to sun exposure because of the lack of protection typically afforded by darker pigments.

Albinism arises from mutations in specific genes involved in melanin production, such as the TYR gene, which can affect enzymatic pathways crucial for synthesizing melanin. This disruption can lead not only to noticeable differences in pigmentation but also to potential visual problems due to the lack of pigment in the retina.

In contrast, cystic fibrosis is a disorder affecting the respiratory and digestive systems due to mutations in the CFTR gene, and it does not involve pigmentation issues. Phenylketonuria is caused by a deficiency in the enzyme needed to metabolize phenylalanine, leading to neurological issues rather than pigmentation. Sickle cell disease is a blood disorder arising from mutations in the hemoglobin gene, characterized by abnormal red blood cells, which is unrelated to melanin synthesis. Therefore, albinism is the only option that accurately describes a condition