Leisch nyhan syndrome due to?
**Core Concept**
Leigh syndrome is a rare, severe disorder of the nervous system and energy-producing (mitochondrial) within cells. It is caused by mutations in genes that affect the synthesis of ATP, leading to impaired energy production and cellular damage.
**Why the Correct Answer is Right**
Leigh syndrome is caused by mutations in the genes that encode for the enzymes involved in the mitochondrial energy-producing process. The correct answer is related to the deficiency of the enzyme **succinate dehydrogenase (SDH)** or **succinate-CoA synthetase (SCS)**, which is crucial for the electron transport chain in mitochondria. This deficiency leads to impaired energy production, resulting in the symptoms of Leigh syndrome.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not describe a known cause of Leigh syndrome. While **pyruvate dehydrogenase (PDH)** deficiency is a cause of lactic acidemia, it is not directly associated with Leigh syndrome.
**Option B:** This option is incorrect because **cytochrome c oxidase (COX)** deficiency is a cause of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, not Leigh syndrome.
**Option C:** This option is incorrect because **diaphorase (NADH dehydrogenase)** deficiency is not a recognized cause of Leigh syndrome.
**Clinical Pearl / High-Yield Fact**
Leigh syndrome is characterized by the presence of brainstem lesions, often accompanied by peripheral neuropathy and lactic acidemia. It is essential to consider Leigh syndrome in the differential diagnosis of patients with encephalopathy and lactic acidosis.
**Correct Answer: D. Deficiency of succinate dehydrogenase (SDH) or succinate-CoA synthetase (SCS)**