Mitochondrial abnormalities are seen in -a) Oncocytomab) Kearn-Sayre syndromec) Faber diseased) Mitochondrial myopathye) Leigh’s disease
**Core Concept**
Mitochondrial abnormalities refer to defects in the structure or function of mitochondria, which are the energy-producing organelles within cells. These defects can lead to a range of clinical manifestations, including muscle weakness, neurological dysfunction, and metabolic disorders.
**Why the Correct Answer is Right**
Mitochondrial myopathies are a group of disorders caused by mutations in mitochondrial DNA, leading to impaired energy production in muscle cells. This results in muscle weakness, cramping, and fatigue. The most common mitochondrial myopathies include Kearns-Sayre syndrome (KSS), mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), and myoclonic epilepsy with ragged-red fibers (MERRF). Kearns-Sayre syndrome is characterized by the presence of ragged-red fibers on muscle biopsy, indicating abnormal mitochondria.
**Why Each Wrong Option is Incorrect**
* **Option A:** Oncocytoma is a benign tumor of the kidney or salivary gland, not typically associated with mitochondrial abnormalities.
* **Option C:** Faber disease is a rare genetic disorder caused by a mutation in the RRM2B gene, affecting DNA replication and cell growth, but not directly related to mitochondrial function.
* **Option D:** Leigh's disease is a rare neurodegenerative disorder caused by mutations in mitochondrial or nuclear DNA, but it primarily affects the central nervous system, whereas the question focuses on mitochondrial myopathies.
**Clinical Pearl / High-Yield Fact**
Mitochondrial myopathies can be challenging to diagnose, as they often present with nonspecific symptoms and may require specialized testing, such as muscle biopsy or genetic analysis, to confirm the diagnosis.
**Correct Answer:** D. **Leigh's disease**