FMGE 2026 Practice Questions

Q: A neonate presents with seizures, low citrulline levels, hyperammonemia, normal orotic acid levels, and high glutamine. What is the most likely diagnosis?

Type I hyperammonemia. ***Type I hyperammonemia*** - Caused by a deficiency of **carbamoyl phosphate synthetase I (CPS I)**, which is the rate-limiting step of the urea cycle. - This block prevents the formation of carbamoyl phosphate, leading to **low orotic acid** and **low citrulline** levels, distinguishing it from OTC deficiency. *Type II hyperammonemia* - Caused by a deficiency of **ornithine transcarbamylase (OTC)**, the most common urea cycle disorder. - This condition is characterized by **elevated orotic acid** in blood and urine due to the accumulation of carbamoyl phosphate being shunted into the pyrimidine synthesis pathway. *Citrullinemia* - Results from a deficiency of **argininosuccinate synthetase**, preventing the condensation of citrulline and aspartate. - It classically presents with **markedly elevated citrulline levels** in the plasma, which contradicts the low citrulline finding in this patient. *Argininosuccinic aciduria* - Caused by a deficiency of **argininosuccinate lyase**, leading to the accumulation of argininosuccinate. - Patients typically show **elevated levels of argininosuccinate** and citrulline, rather than the low citrulline profile observed here.

Q: A chronic alcoholic who consumes a non -vegetarian diet presents with confusion, gait disturbance, and eye movement abnormalities.Deficiency of which vitamin is most likely responsible for these findings?

Thiamine (Vitamin B1). ***Thiamine (Vitamin B1)*** - This clinical triad of **confusion**, **ataxia** (gait disturbance), and **ophthalmoplegia** (eye movement abnormalities) is the classic presentation of **Wernicke encephalopathy**. - Chronic alcohol use impairs **thiamine absorption**, and the deficiency leads to metabolic dysfunction in the brain, particularly in the **thalamus** and **mammillary bodies**. *Vitamin B12* - Deficiency typically presents with **megaloblastic anemia** and **subacute combined degeneration of the spinal cord**, manifesting as sensory deficits and weakness, rather than acute ophthalmoplegia. - While confusion can occur (megaloblastic madness), it is not associated with the classic triad seen in alcohol-induced neurological decline. *Niacin* - Causes **pellagra**, characterized by the 3 D's: **dermatitis** (photosensitive rash), **diarrhea**, and **dementia** (not isolated ataxia or eye movement issues). - Symptoms are usually dermatological and gastrointestinal before severe neurological impairment occurs. *Pyridoxine* - Deficiency typically presents with **peripheral neuropathy** (burning sensation, tingling) and **sideroblastic anemia**. - It is not associated with movement disorders like ataxia or the specific oculomotor deficits seen in Wernicke encephalopathy.

Q: Interpret the acid-base status for the following lab values. HCO3-14; PaCO2 -24; pH-7.4.

Metabolic acidosis with compensation. ***Metabolic acidosis with compensation*** - The **bicarbonate (HCO3) of 14 mEq/L** is low, indicating a **primary metabolic acidosis**. - The **pH of 7.4** is within the normal range, indicating **complete respiratory compensation** via hyperventilation, which is reflected by the low PaCO2. *Respiratory acidosis without compensation* - This condition would present with a **low pH ( 7.45)** and a low PaCO2, typically caused by hyperventilation without an underlying metabolic disturbance. - In this scenario, the primary abnormality is the **low HCO3**, not the PaCO2. *Metabolic alkalosis with compensation* - This disorder typically presents with an **elevated HCO3 (>28 mEq/L)** as the primary finding. - Patients with metabolic alkalosis would manifest a **high pH**, which is not observed in this case.

Q: A 58-year-old man presents to the emergency department with sudden onset severe retrosternal chest pain associated with diaphoresis and nausea. ECG shows ST elevation in leads II, III, aVF. His BP is 80/60 mmHg with cool extremities, but lung fields clear on ausculataion. What is the next best step in management?

IV normal saline. ***IV normal saline*** - This patient has an **inferior wall myocardial infarction** (ST elevation in II, III, aVF) complicated by **hypotension** and **clear lung fields**, which is highly suggestive of **Right Ventricular (RV) Infarction**. - The right ventricle is **preload-dependent**; therefore, initial management requires **aggressive fluid resuscitation** with intravenous normal saline to optimize preload and cardiac output. *Nitroglycerine* - Nitroglycerin is a **venodilator** that decreases preload, which can cause severe, life-threatening **hypotension** in patients with RV infarction. - It should be strictly avoided in patients with right-sided heart involvement until right ventricular preload is adequately restored. *Diuretics* - Diuretics decrease intravascular volume and would worsen the **hypotension** already present in this patient. - They are contraindicated in acute RV infarction, regardless of the presence of peripheral edema, due to the need to maintain preload. *Vasopressors* - Vasopressors are considered only if the patient remains hypotensive after **adequate fluid resuscitation** and is unresponsive to volume loading. - Starting vasopressors before optimizing preload can exacerbate ischemia and myocardial work, making fluids the primary first-line intervention.

Q: Middle aged male presented with gradually progressive effort intolerance and awareness of forceful heartbeats over the last few moths. On geneal physical examination, there is a visibly strong, bounding pulasation in the neck with prominent carotid upstroke. Careful inspection of the nail beds reveals rhythmic pulsatile blanching synchronous with cardiac cycle. Which of the following auscultatory findings best corresponds to this clinical presentation?

Early diastolic murmur. ***Early diastolic murmur*** - The patient exhibits classic signs of **chronic aortic regurgitation (AR)**, including a **bounding pulse** (water-hammer pulse) and **Quincke's pulse** (pulsatile capillary blanching under nail beds). - The hallmark auscultatory finding in **aortic regurgitation** is a high-pitched, blowing **early diastolic murmur** best heard at the left sternal border. *Late diastolic murmur* - This finding is classically associated with **mitral stenosis**, often described as a **presystolic accentuation**. - It does not correlate with the peripheral vascular findings of increased stroke volume and rapid runoff seen in **aortic regurgitation**. *Systolic crescendo decresendo* - This murmur is the classic presentation of **aortic stenosis**, typically heard at the right upper sternal border. - Unlike AR, **aortic stenosis** presents with a **pulsus parvus et tardus** (weak and delayed pulse), which contradicts the bounding pulse described. *Mid systolic murmur* - Often heard in conditions like **mitral valve prolapse** (associated with a click) or benign **flow murmurs**. - It lacks the diastolic timing required to explain the significant high-pressure jet refluxing from the aorta into the left ventricle during diastole.

Q: You are asked to assess the pulse tracing of the patient. The following pulse corresponds to involvement of which of the following heart valves?

Aortic valve. ***Aortic valve*** - The arterial pulse tracing is a direct reflection of left ventricular outflow, making it the primary diagnostic indicator for **aortic valve disease** such as **aortic stenosis** (resulting in *pulsus parvus et tardus*) or **aortic regurgitation** (resulting in *collapsing pulse* or *water-hammer pulse*). - Morphological changes in the waveform, such as a **bisferiens pulse**, are classic findings associated specifically with combined aortic stenosis and insufficiency. *Mitral valve* - Mitral valve pathology typically presents with specific auscultatory findings, such as a **holosystolic murmur** or **mid-systolic click**, rather than characteristic arterial pulse abnormalities. - While severe, chronic mitral regurgitation may eventually lead to reduced cardiac output, it does not produce a specific, diagnostic arterial pulse wave morphology. *Tricuspid valve* - Tricuspid valve involvement is best assessed through **jugular venous pulse (JVP)** analysis, specifically looking for abnormal 'v' waves or systolic 'c-v' waves, rather than the peripheral arterial pulse. - Peripheral arterial pulse tracings are generally unaffected by tricuspid regurgitation or stenosis, as the right-sided circulation is separated from the systemic arterial bed. *Pulmonary valve* - Pulmonary valve pathology, such as **pulmonary stenosis**, manifests primarily as an abnormal jugular venous 'a' wave or right ventricular heave, not changes in the peripheral arterial pulse. - The arterial pulse remains essentially normal in pulmonary valve disease because the obstruction is located in the right heart, occurring before the blood reaches the pulmonary or systemic circulation.

Q: A patient presents with complaints of shortness of breath and effort intolerance. On auscultation a loud opening snap with mid diastolic murmur is heard. Echocardiography shows an EF of 38%. ECG is shown below. Diagnosis is?

Critical mitral stenosis. ***Critical mitral stenosis*** - A **loud opening snap** followed by a **mid-diastolic murmur** is the classic auscultatory finding of **mitral stenosis**, caused by the sudden tensing of the mitral valve leaflets upon opening. - The clinical presentation of **shortness of breath** and **effort intolerance** suggests elevated **left atrial pressure** and resultant pulmonary congestion, hallmarks of mitral stenosis severity. *Aortic stenosis* - Characterized by a **systolic ejection murmur** that radiates to the carotids, rather than a **mid-diastolic murmur**. - Typically presents with a **pulsus parvus et tardus** (weak and delayed carotid upstroke), which is not described here. *Mitral Regurgitation* - Presents with a **holosystolic murmur** heard best at the apex, radiating to the axilla, differing from the diastolic murmur seen in mitral stenosis. - Because blood flows back into the left atrium during systole, you would not expect an **opening snap**. *Aortic regurgitation* - Presents with an **early diastolic decrescendo murmur** best heard at the left sternal border. - It is frequently associated with a **wide pulse pressure** and **water-hammer pulse**, contrasting with the obstructive clinical picture of this patient.

Q: A young patient presents with persistently elevated blood pressure despite adequate lifestyle measures. Laboratory evaluation reveals hypokalemia associated with metabolic alkalosis. There is no history of diuretic intake, and renal function tests are within normal limits. Which of the following is the most likely diagnosis?

Conn syndrome. ### ***Conn syndrome*** - This condition, also known as **primary hyperaldosteronism**, typically presents with **hypertension**, **hypokalemia**, and metabolic alkalosis, driven by autonomous aldosterone secretion from an adrenal adenoma. - The absence of diuretic use and normal renal function supports an endocrine cause of **secondary hypertension**, where inappropriate mineralocorticoid activity leads to sodium retention and renal potassium wasting. *Pheochromocytoma* - While this condition causes hypertension, it typically presents with **paroxysmal episodes** of headache, palpitations, and sweating. - It is not routinely associated with the classic triad of hypokalemia and metabolic alkalosis seen in **primary hyperaldosteronism**. *Liddle syndrome* - This is an **autosomal dominant** disorder caused by a gain-of-function mutation in the **epithelial sodium channel (ENaC)**, causing early-onset hypertension and hypokalemia. - Crucially, Liddle syndrome is characterized by **suppressed plasma aldosterone** and low renin levels, whereas Conn syndrome presents with high aldosterone levels. *Carcinoid syndrome* - This condition arises from **neuroendocrine tumors** and is defined by the triad of flushing, diarrhea, and wheezing, rather than hypertensive endocrine workups. - There is no direct pathophysiological link between carcinoid syndrome and the development of **hypokalemia** in the setting of hypertension.

Q: A patient presents with hepatomegaly and joint pain. Investigations suggest abnormal intracellular accumulation of macromolecules such as lipids or glycoconjugates. Which cellular organelle is primarily responsible for this accumulation?

Lysosome. ***Lysosome*** - **Lysosomes** contain hydrolytic enzymes responsible for breaking down complex macromolecules like lipids and glycosaminoglycans; their deficiency leads to **lysosomal storage diseases**. - Accumulation of undigested substrate in organs like the liver (**hepatomegaly**) and connective tissue (**joint pain**) is a hallmark feature of these disorders, such as **Gaucher disease** or **Mucopolysaccharidoses**. *Golgi apparatus* - The **Golgi apparatus** is primarily involved in the post-translational modification, packaging, and sorting of proteins and lipids for secretion or delivery to other organelles. - Defects here typically result in altered **protein trafficking** or secretion rather than the massive intracellular accumulation of undigested macromolecular substances. *Mitochondria* - **Mitochondria** are primarily responsible for **ATP production** via oxidative phosphorylation and the regulation of apoptosis. - Dysfunction commonly manifests as **myopathy**, lactic acidosis, or neurological deficits, rather than the storage of complex macromolecules. *Peroxisome* - **Peroxisomes** are responsible for the breakdown of **very-long-chain fatty acids (VLCFAs)** via beta-oxidation and the catabolism of hydrogen peroxide. - Accumulation here corresponds to conditions like **Zellweger syndrome** or **X-linked adrenoleukodystrophy**, which primarily cause severe neurological symptoms rather than the classic lysosomal storage pattern.

Question 1

A neonate presents with seizures, low citrulline levels, hyperammonemia, normal orotic acid levels, and high glutamine. What is the most likely diagnosis?

Accepted Answer

Type I hyperammonemia

Answer

Type II hyperammonemia

Answer

Citrullinemia

Answer

Argininosuccinic aciduria

Question 2

A chronic alcoholic who consumes a non -vegetarian diet presents with confusion, gait disturbance, and eye movement abnormalities.Deficiency of which vitamin is most likely responsible for these findings?

Accepted Answer

Thiamine (Vitamin B1)

Answer

Vitamin B12

Answer

Niacin

Answer

Pyridoxine

Question 3

Interpret the acid-base status for the following lab values. HCO3-14; PaCO2 -24; pH-7.4.

Accepted Answer

Metabolic acidosis with compensation

Answer

Respiratory acidosis without compensation

Answer

Respiratory alkalosis without compensation

Answer

Metabolic alkalosis with compensation

Question 4

A 58-year-old man presents to the emergency department with sudden onset severe retrosternal chest pain associated with diaphoresis and nausea. ECG shows ST elevation in leads II, III, aVF. His BP is 80/60 mmHg with cool extremities, but lung fields clear on ausculataion. What is the next best step in management?

Accepted Answer

IV normal saline

Answer

Nitroglycerine

Answer

Diuretics

Answer

Vasopressors

Question 5

Middle aged male presented with gradually progressive effort intolerance and awareness of forceful heartbeats over the last few moths. On geneal physical examination, there is a visibly strong, bounding pulasation in the neck with prominent carotid upstroke. Careful inspection of the nail beds reveals rhythmic pulsatile blanching synchronous with cardiac cycle. Which of the following auscultatory findings best corresponds to this clinical presentation?

Accepted Answer

Early diastolic murmur

Answer

Late diastolic murmur

Answer

Systolic crescendo decresendo

Answer

Mid systolic murmur

Question 6

You are asked to assess the pulse tracing of the patient. The following pulse corresponds to involvement of which of the following heart valves?

Accepted Answer

Aortic valve

Answer

Mitral valve

Answer

Tricuspid valve

Answer

Pulmonary valve

Question 7

A patient presents with complaints of shortness of breath and effort intolerance. On auscultation a loud opening snap with mid diastolic murmur is heard. Echocardiography shows an EF of 38%. ECG is shown below. Diagnosis is?

Accepted Answer

Critical mitral stenosis

Answer

Aortic stenosis

Answer

Mitral Regurgitation

Answer

Aortic regurgitation

Question 8

A young patient presents with persistently elevated blood pressure despite adequate lifestyle measures. Laboratory evaluation reveals hypokalemia associated with metabolic alkalosis. There is no history of diuretic intake, and renal function tests are within normal limits. Which of the following is the most likely diagnosis?

Accepted Answer

Conn syndrome

Answer

Pheochromocytoma

Answer

Liddle syndrome

Answer

Carcinoid syndrome

Question 9

A patient was detected to have a medullary carcinoma of thyroid and has a family history of endocrine tumors, and genetic counseling is advised. The clinician plans further evaluation to identify associated inherited syndromes and guide family screening. Which of the following statements regarding this condition is correct?

Accepted Answer

Patients should be screened for RET gene mutations associated with MEN 2A and MEN 2B

Answer

Menin proto-oncogene mutation is associated with MEN 1

Answer

Medullary thyroid carcinoma arises from follicular cells and is associated with BRAF mutation

Answer

Prophylactic thyroidectomy is not indicated in asymptomatic family members

Question 10

A patient presents with hepatomegaly and joint pain. Investigations suggest abnormal intracellular accumulation of macromolecules such as lipids or glycoconjugates. Which cellular organelle is primarily responsible for this accumulation?

Accepted Answer

Lysosome

Answer

Golgi apparatus

Answer

Mitochondria

Answer

Peroxisome

FMGE 2026

Biochemistry

Internal Medicine

Pathology