Gaucher’s disease (Option C) is the correct answer, as it directly results from mutations limiting glucocerebrosidase production.

This lysosomal storage disorder occurs when the enzyme fails to break down glucocerebroside, a fatty substance, leading to its buildup in cells like macrophages.

Option Breakdown

• (A) Klinefelter Syndrome: Caused by an extra X chromosome (XXY) in males, leading to infertility, tall stature, and hormonal issues; no link to glucocerebrosidase or fat metabolism.​

• (B) Phenylketonuria: Results from phenylalanine hydroxylase deficiency, causing amino acid buildup and intellectual disability if untreated; unrelated to lipid enzymes.​

• (C) Gaucher’s disease: Matches exactly—glucocerebrosidase mutations prevent glucocerebroside breakdown, accumulating in liver, spleen, and bones, causing organ enlargement and pain.

• (D) Turner Syndrome: Involves a missing X chromosome (XO) in females, leading to short stature and ovarian issues; chromosomal, not enzymatic.​

Glucocerebrosidase Gaucher’s disease is a key topic in biochemistry for competitive exams like GATE Life Sciences. A genetic mutation limiting glucocerebrosidase—an enzyme breaking down fats like glucocerebroside—triggers this lysosomal storage disorder.

Disease Mechanism

In Gaucher’s disease, deficient glucocerebrosidase causes glucocerebroside accumulation in macrophages (Gaucher cells), enlarging spleen, liver, and bones. Symptoms include fatigue, anemia, and fractures; enzyme replacement therapy treats it.

Why Not Other Options?

Klinefelter Syndrome and Turner Syndrome are chromosomal (XXY/XO), not enzyme defects. Phenylketonuria involves phenylalanine metabolism, unrelated to fats. Only Gaucher’s fits glucocerebrosidase Gaucher’s disease.

Exam Relevance

For GATE Life Sciences, recognize lysosomal disorders: Gaucher’s (glucocerebrosidase), Fabry (alpha-galactosidase). Practice MCQs to master genetics and biochemistry links.