**Core Concept:**
Urea cycle disorders are a group of inherited deficiencies in enzymes involved in the urea cycle, which is essential for the detoxification of excess ammonia in the liver. Ammonia is a toxic substance produced during the breakdown of proteins and must be eliminated from the body. Urea cycle enzymes help convert ammonia into urea, which can be excreted via urine. Three key enzymes involved in the urea cycle are:
1. Ornithine Transcarbamylase (OTC)
2. Argininosuccinate Synthase (AS)
3. Argininosuccinate Lyase (AL)
**Why the Correct Answer is Right:**
In this case, the child exhibits symptoms of hyperammonemia, which is characterized by elevated serum ammonia levels. The child also presents with convulsions, fine tremors, and failure to thrive. Microscopic examination of the hair reveals increased density of melanocytes and decreased density of keratinocytes, indicating impaired keratinization and increased melanization. These findings are consistent with a deficiency of one of the enzymes in the urea cycle.
The correct answer is likely to be a deficiency of OTC (Ornithine Transcarbamylase) or AS (Argininosuccinate Synthase). These enzymes are involved in the first two steps of the urea cycle, converting citrulline and ornithine to argininosuccinate, which then gets converted to arginine and fumarate.
**Why Each Wrong Option is Incorrect:**
A. Urea Cycle Disorders due to AS deficiency (Argininosuccinate Synthase) would typically present with symptoms related to hyperammonemia, but the hair findings are more consistent with OTC deficiency.
B. Urea Cycle Disorders due to AL deficiency (Argininosuccinate Lyase) would present with symptoms related to hyperammonemia, but the hair findings are more consistent with OTC deficiency.
C. Urea Cycle Disorders due to OTC deficiency would present with symptoms related to hyperammonemia, but the hair findings are more consistent with AS deficiency.
**Clinical Pearl:**
In summary, the correct answer is deficiency of OTC (Ornithine Transcarbamylase), which leads to urea cycle disorders, resulting in elevated ammonia levels, and hair findings consistent with impaired keratinization and increased melanization. OTC deficiency is the most likely cause of the symptoms and hair findings described in the question.
**Correct Answer:**
D. Urea Cycle Disorders due to OTC deficiency
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.