November 2024

Glycogen Storage Diseases- Multiple Choice Questions

1. A 3-month-old male infant presents with poor feeding, hypotonia, and cardiomegaly on physical exam. Blood tests reveal elevated lactate, uric acid, and creatine kinase levels. Echocardiogram demonstrates hypertrophic cardiomyopathy. A muscle biopsy shows excessive glycogen storage in lysosomes. Which enzyme deficiency is most likely responsible for this infant’s condition? A. Glucose-6-phosphatase B. Debranching enzyme […]

Glycogen Storage Diseases- Multiple Choice Questions Read More »

Glycogen storage diseases with mnemonics to aid memorization

A table summarizing the main glycogen storage diseases (GSDs) with enzyme defects, key clinical features, and mnemonics to aid memorization: Glycogen Storage Disease Enzyme Defect Key Clinical Features Mnemonic Type I: von Gierke Disease (GSD I) Glucose-6-phosphatase Severe fasting hypoglycemia, hepatomegaly, lactic acidosis, hyperlipidemia, hyperuricemia “von Gierke: ‘G6P’s Gone, Liver Left Low” Type II: Pompe

Glycogen storage diseases with mnemonics to aid memorization Read More »

Glycogen Metabolism- Multiple-Choice Questions with Complete explanations-Part-1

1. Imagine you’re preparing for a long-distance marathon and need sustained energy throughout the race. Which of the following organs stores the maximum amount of glycogen that your body can use during prolonged exercise? A. Adipose tissue B. Cardiac muscle C. Kidney D. Liver E. Skeletal muscle   The correct answer is E. Skeletal muscle:

Glycogen Metabolism- Multiple-Choice Questions with Complete explanations-Part-1 Read More »

Multiple-Choice Questions- HMP/Pentose phosphate pathway

1. A researcher is investigating the effect of an enzyme whose reaction product is crucial for de novo fatty acid synthesis. Which of the following enzymes is most likely the focus of this study? A. Acyl CoA Dehydrogenase B. Glucose-6-Phosphatase C. Glucose-6-Phosphate Dehydrogenase (G-6PD) D. Lactate Dehydrogenase E. Phosphofructokinase-1 (PFK-1)   Correct Answer – C.

Multiple-Choice Questions- HMP/Pentose phosphate pathway Read More »

error: Content is protected !!