Galactosaemia Disorder from Enzyme Deficiency

This question asks to identify the disorder resulting from a lack of the specific enzyme, galactose-1-phosphate uridyltransferase. Understanding the function of this enzyme is key to identifying the correct disorder.

Enzyme Function and Deficiency

• Enzyme Role: The enzyme galactose-1-phosphate uridyltransferase plays a vital role in metabolizing galactose, a sugar found in milk and dairy products. Specifically, it converts galactose-1-phosphate into glucose-1-phosphate, allowing the body to use it for energy.
• Deficiency Impact: When this enzyme is deficient or absent, galactose cannot be properly processed. This leads to a buildup of galactose and toxic intermediates, such as galactose-1-phosphate, in the body.
• Affected Organs: These substances can accumulate in various tissues, including the liver, brain, eyes, and kidneys, potentially causing significant damage.

Identifying the Correct Disorder

Based on the enzyme deficiency described:

• Galactosaemia: This is the classic metabolic disorder directly caused by the deficiency of galactose-1-phosphate uridyltransferase. It affects the body's ability to process galactose, leading to the accumulation of harmful substances and associated health problems, especially in infants.

Analysis of Other Options

The other options represent different conditions not caused by this specific enzyme deficiency:

• Harmochromatosis: This is a condition characterized by excessive iron absorption and storage in the body, leading to organ damage. It is unrelated to galactose metabolism.
• Wilson's Disease: This is a rare genetic disorder where copper builds up in the body, primarily affecting the liver and brain. It involves copper metabolism, not galactose.
• Reye's Syndrome: This serious condition involves swelling in the liver and brain and is often linked to aspirin use in children recovering from viral infections. It is not related to the deficiency of galactose-1-phosphate uridyltransferase.

Conclusion

Therefore, the disorder that occurs due to the deficiency of galactose-1-phosphate uridyltransferase is Galactosaemia.