A 34-year-old female has a history of intermittent episodes of severe abdominal pain. She has had multiple abdominal surgeries and exploratory procedures with no abnormal findings. Her urine appears dark during an attack and gets even darker if exposed to sunlight. The attacks seem to peak after she takes erythromycin, because of her penicillin allergy. This patient most likely has difficulty in synthesizing which one of the following?
A 34-year-old female has a history of intermittent episodes of severe abdominal pain. She has had multiple abdominal surgeries and exploratory procedures with no abnormal findings. Her urine appears dark during an attack and gets even darker if exposed to sunlight. The attacks seem to peak after she takes erythromycin, because of her penicillin allergy. This patient most likely has difficulty in synthesizing which one of the following?
💡 Explanation
**Core Concept**
The patient's symptoms are suggestive of Alkaptonuria, a rare genetic disorder characterized by the deficiency of homogentisate 1,2-dioxygenase (HGD) enzyme. This enzyme plays a crucial role in the breakdown of tyrosine and phenylalanine in the body.
**Why the Correct Answer is Right**
The patient's condition is likely due to the accumulation of homogentisic acid, a byproduct of tyrosine metabolism. This accumulation leads to the darkening of urine upon exposure to sunlight, a characteristic feature of Alkaptonuria. The patient's symptoms are exacerbated by taking erythromycin, which is a substrate for the CYP3A4 enzyme, potentially increasing the levels of homogentisic acid. The patient's penicillin allergy is irrelevant to the diagnosis.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because the patient's symptoms do not match those of Phenylketonuria (PKU), a disorder caused by the deficiency of phenylalanine hydroxylase.
**Option B:** This option is incorrect because the patient's symptoms do not match those of Tyrosinemia, a disorder caused by the deficiency of fumarylacetoacetate hydrolase (FAH).
**Option C:** This option is incorrect because the patient's symptoms do not match those of Maple Syrup Urine Disease (MSUD), a disorder caused by the deficiency of the branched-chain alpha-keto acid dehydrogenase complex.
**Clinical Pearl / High-Yield Fact**
Alkaptonuria is a rare genetic disorder that can lead to ochronosis, a condition characterized by the accumulation of homogentisic acid in connective tissues, resulting in blue-black pigmentation of the skin and joints.
**Correct Answer: D. Homogentisate 1,2-dioxygenase (HGD)**
✓ Correct Answer: A. Heme
📤 Share this MCQ
Share Card Preview
👆 1080x1080 square card — fills the full width in WhatsApp and Telegram