Endocrine Questions Flashcards
A 4-year-old child is brought to the pediatrician with a history of abdominal distension. Upon examination, the physician notes hepatosplenomegaly (enlarged liver and spleen). The parents mention that the child has been experiencing some developmental delays and clumsiness when walking or holding objects.
Question: Which examination finding, mentioned in the case, most strongly suggests a lysosomal storage disease?
Answer:** C) Organomegaly
Explanation: Organomegaly, particularly hepatosplenomegaly, is a key examination finding that may suggest lysosomal storage diseases, such as Gaucher disease, Niemann-Pick disease, or Hurler syndrome. These diseases result from defects in the degradation of certain macromolecules, leading to their accumulation in the liver, spleen, and other organs. The other symptoms, such as clumsiness and developmental delay, might also support this suspicion.
A 2-year-old girl was recently switched to a high-protein diet as advised by a nutritionist. A few weeks after the dietary change, she begins to exhibit crying spells, irritability, and lack of interest in playing, followed by episodes of vomiting and changes in her behavior, such as lethargy and confusion.
Question: What symptom, associated with the change in diet, might suggest an inborn error of metabolism (IEM)?
C) Neurological Symptoms
Explanation: The new onset of neurological symptoms, particularly following a dietary change, suggests a possible inborn error of metabolism, such as a urea cycle disorder or an amino acid metabolism disorder (e.g., phenylketonuria or maple syrup urine disease). These conditions can lead to the accumulation of toxic metabolites that affect brain function, especially when triggered by dietary changes that increase the metabolic load.
Case:** In a routine exam, a 9-month-old infant presents with poor feeding and has not been gaining weight as expected. The doctor orders a urinalysis, which reveals the presence of reducing substances in the urine.
Question: For infants suspected of having an IEM, how might the identification of substances in the urine guide diagnosis?
Answer:** B) Reducing substances
Explanation: The presence of reducing substances in urine may indicate a disorder of carbohydrate metabolism, such as galactosemia, where galactose or its metabolites are excreted in the urine. This finding can guide further diagnostic testing and help in the management of inborn errors of metabolism by identifying specific metabolic pathways that are impaired.
A 4-year-old child with hepatosplenomegaly might have which of the following disorders?**
- A) Cystic Fibrosis
- B) Lysosomal Storage Disease
- C) Iron Deficiency Anemia
- D) Type 1 Diabetes
Answer:** B) Lysosomal Storage Disease
Which symptom is least likely to be directly associated with a lysosomal storage disease?**
- A) Organomegaly
- B) Developmental delays
- C) Clumsiness
- D) High blood pressure
Answer:** D) High blood pressure
the accumulation of what type of molecules typically characterizes lysosomal storage diseases?**
- A) Hormones
- B) Lipids or Carbohydrates
- C) Proteins
- D) Nucleic acids
Answer:** B) Lipids or Carbohydrates
Which of these is a common diagnostic test for detecting lysosomal storage disease?**
- A) Complete blood count
- B) Urinary catheterization
- C) Enzyme assay
- D) Electrocardiogram (ECG)
*Answer:** C) Enzyme assay
In Gaucher disease, which organ is most likely enlarged?**
- A) Pancreas
- B) Kidney
- C) Liver
- D) Heart
- Answer: C) Liver
What condition may be suggested by neurological symptoms following a dietary change to high-protein intake?**
- A) Urea cycle disorder
- B) Lactose intolerance
- C) Vitamin D deficiency
- D) Iron overload
*Answer:** A) Urea cycle disorder
Which is NOT a common symptom indicating a urea cycle disorder?**
- A) Vomiting
- B) Hyperactivity
- C) Lethargy
- D) Confusion
Answer: B) Hyperactivity
Which is NOT a dietary trigger for symptoms in urea cycle disorders?**
- A) High protein diet
- B) High-fat diet
- C) Fasting
- D) Fever
*Answer:** B) High-fat diet
Phenylketonuria is managed by controlling levels of which amino acid?**
- A) Lysine
- B) Methionine
- C) Phenylalanine
- D) Valine
Answer: C) Phenylalanine
Before adjustments to diet, the presence of neurological abnormalities in this context might signify an issue with what kind of metabolism?**
- A) Fat metabolism
- B) Protein metabolism
- C) Carbohydrate metabolism
- D) Mineral metabolism
Answer:** B) Protein metabolism
Which condition is most specifically suggested by reducing substances found in an infant’s urine?**
- A) Galactosemia
- B) Hemochromatosis
- C) Type 1 diabetes
- D) Celiac disease
- Answer: A) Galactosemia
*What is a common method used to detect reducing substances in urine?**
- A) Benedict’s test
- B) MRI scan
- C) SPECT scan
- D) Thyroid function test
Answer: A) Benedict’s test
Galactosemia primarily affects the metabolism of which dietary component?**
- A) Fructose
- B) Sucrose
- C) Galactose
- D) Glucose
- Answer: C) Galactose
What dietary change helps manage galactosemia?**
- A) Low-salt diet
- B) Gluten-free diet
- C) Galactose and lactose restriction
- D) High-protein diet
*Answer:** C) Galactose and lactose restriction
Which is NOT a symptom typically associated with untreated galactosemia?**
- A) Jaundice
- B) Cataracts
- C) Increased appetite
- D) Hepatomegaly
- Answer: C) Increased appetite
Inborn errors of metabolism are primarily due to defects in what?**
- A) Lifestyle choices
- B) Environmental factors
- C) Enzymatic processes
- D) External pathogens
Answer: C) Enzymatic processes
Which of these tests is often used as a first line of investigation in suspected metabolic diseases?**
- A) Lipid profile
- B) Genetic testing
- C) Urinalysis for reducing substances
- D) ECG
Answer:** C) Urinalysis for reducing substances
What organ is typically most involved in detoxifying nitrogen waste products from amino acid metabolism?**
- A) Heart
- B) Liver
- C) Spleen
- D) Lungs
Answer: B) Liver
Irritability and vomiting in infants with metabolic disorders indicate toxicity from what type of metabolite?**
- A) Nucleotide
- B) Carbohydrate derivative
- C) Protein-related
- D) Lipid
- Answer: C) Protein-related
Managing an inborn error of metabolism often requires the avoidance of what?**
- A) Sodium
- B) Specific food components
- C) All fats
- D) Physical exercise
Answer: B) Specific food components
A 6-month-old infant is brought to the pediatrician due to poor feeding and lethargy. The parents report that the child has occasional episodes of tremors and irritability relieved by feeding. On physical examination, the infant exhibits hepatomegaly and a distended abdomen. Laboratory workup reveals hypoglycemia, lactic acidosis, hyperlipidemia, and elevated liver enzymes.
Questions:
-
What is the most likely diagnosis?
- A) Phenylketonuria
- B) Von Gierke’s Disease (Glycogen Storage Disease Type I)
- C) Galactosemia
- D) Maple Syrup Urine Disease
Answer:** B) Von Gierke’s Disease (Glycogen Storage Disease Type I)
A 6-month-old infant is brought to the pediatrician due to poor feeding and lethargy. The parents report that the child has occasional episodes of tremors and irritability relieved by feeding. On physical examination, the infant exhibits hepatomegaly and a distended abdomen. Laboratory workup reveals hypoglycemia, lactic acidosis, hyperlipidemia, and elevated liver enzymes.
*What enzyme deficiency is associated with this condition?**
- A) Galactose-1-phosphate uridyltransferase
- B) Glucose-6-phosphatase
- C) Branching enzyme
- D) Lysosomal alpha-glucosidase
Answer:** B) Glucose-6-phosphatase
Explanation:**
Von Gierke’s Disease is caused by a deficiency in the enzyme glucose-6-phosphatase, which leads to the inability to convert glycogen into glucose, causing hypoglycemia and associated symptoms such as seizures and irritability that resolve with feeding. Hepatomegaly and lactic acidosis are also characteristic.
15-year-old boy presents with a history of muscle cramps and fatigue during physical education classes at school. He notices that his symptoms improve after resting. A physical exam reveals muscle weakness, and laboratory tests show elevated creatine kinase (CK) levels after exercise.
Questions:
-
What is the most likely diagnosis?
- A) McArdle’s Disease (Glycogen Storage Disease Type V)
- B) von Gierke’s Disease
- C) Pompe disease
- D) Galactosemia
Answer:** A) McArdle’s Disease (Glycogen Storage Disease Type V)
*Which enzyme deficiency is responsible for this condition (McArdles Disease)?**
- A) Glycogen phosphorylase (muscle-specific)
- B) Acid alpha-glucosidase
- C) Debranching enzyme
- D) Glucokinase
Answer: A) Glycogen phosphorylase (muscle-specific)
McArdle’s Disease is due to a deficiency of the muscle-specific glycogen phosphorylase enzyme, which impairs glycogen breakdown during exercise, leading to muscle cramping and fatigue. The symptoms improve with rest, and there is typically no hypoglycemia.
An 8-day-old newborn is brought to the hospital with vomiting, jaundice, poor feeding, and lethargy. The infant recently started formula feeding. Laboratory results reveal elevated bilirubin, anemia, and presence of reducing substances in urine.
Questions:
-
What dietary change should be implemented immediately?
- A) Initiate a low-protein diet
- B) Eliminate lactose/galactose from diet
- C) Start high-fat diet
- D) Gluten-free diet
Answer:** B) Eliminate lactose/galactose from diet
What enzyme deficiency characterizes this condition?**
- A) Glucose-6-phosphatase
- B) Galactose-1-phosphate uridyltransferase
- C) Fructokinase
- D) Alpha-galactosidase
Answer:** B) Galactose-1-phosphate uridyltransferase
Galactosemia results from deficiency in galactose-1-phosphate uridyltransferase, leading to accumulation of galactose-1-phosphate. The presence of reducing substances in the urine and neonatal symptoms after lactose-containing feedings are indicative. Treatment involves dietary restriction of lactose/galactose. Untreated, it can lead to severe complications like liver damage and developmental issues.
A 9-month-old who has recently been introduced to fruit juices develops irritability, sweating, and vomiting after meals. The infant appears pale and exhibits signs of hypoglycemia. Symptoms abate when fructose-containing foods are withdrawn.
Questions:
-
What is the likely diagnosis for this infant?
- A) Galactosemia
- B) Hereditary Fructose Intolerance
- C) Von Gierke’s Disease
D) Fructosuria
Answer:** B) Hereditary Fructose Intolerance
What enzyme defect is most commonly associated with this condition (hereditary fructose intolerance)?**
- A) Fructose-1,6-bisphosphatase
- B) Aldolase B
- C) Galactokinase
- D) Sorbitol dehydrogenase
Answer:** B) Aldolase B
Hereditary Fructose Intolerance is caused by a deficiency in aldolase B, leading to an inability to properly metabolize fructose. On ingestion, accumulation of fructose-1-phosphate inhibits gluconeogenesis and glycolysis, causing hypoglycemia and discomfort. The condition resolves by removing fructose and sucrose from the diet.
What is a common symptom of glycogen storage diseases in children?**
- A) Hyperactivity
- B) Cardiomegaly
- C) Weight gain
- D) Polyuria
Answer:** B) Cardiomegaly
Which of the following enzymes is deficient in Von Gierke’s Disease (Glycogen Storage Disease Type I)?**
- A) Branching enzyme
- B) Glucose-6-phosphatase
- C) Debrancher enzyme
- D) Phosphorylase kinase
Answer:** B) Glucose-6-phosphatase
Which diagnostic test is NOT typically used for glycogen storage diseases?**
- A) Lipid panel
- B) Mutation analysis
- C) EEG
- D) Enzyme assays
- Answer: C) EEG
Galactosemia is primarily managed by:**
- A) Increasing protein intake
- B) Elimination of dietary galactose
- C) Oral corticosteroids
- D) Insulin therapy
Answer: B) Elimination of dietary galactose
A complication of untreated galactosemia can include:**
- A) Cardiomegaly
- B) Osteoporosis
- C) Cirrhosis
- D) Hypertension
*Answer:** C) Cirrhosis
Hypoglycemic seizures in children may suggest a disorder in which metabolic pathway?**
- A) Fatty acid oxidation
- B) Glycogen metabolism
- C) Amino acid metabolism
- D) Nucleic acid metabolism
- Answer: B) Glycogen metabolism
Which of the following signs is commonly seen in newborns with galactosemia after milk feeding?**
- A) Weight gain
- B) Rashes
- C) Jaundice
- D) Tachypnea
- Answer: C) Jaundice
In a child with McArdle’s Disease, which of the following is the deficient enzyme?**
- A) Liver phosphorylase
- B) Muscle phosphorylase
- C) Acid maltase
- D) Debrancher enzyme
*Answer:** B) Muscle phosphorylase
What is a characteristic diagnostic test finding in galactosemia?**
- A) Increased serum glucose levels
- B) Elevated GALT activity in RBCs
- C) Urine reducing substances positive after feeding
- D) Negative for ketone bodies
Answer:** C) Urine reducing substances positive after feeding
Which of the following is NOT a typical clinical finding in glycogen storage diseases?**
- A) Lactic acidosis
- B) Muscle hypertrophy
- C) Hyperlipidemia
- D) Hypotonia
*Answer:** B) Muscle hypertrophy
Which metabolic disorder is detected in newborn screening and involves a deficiency of galactose-1-phosphate uridyltransferase?**
- A) Phenylketonuria
- B) Maple Syrup Urine Disease
- C) Galactosemia
- D) Von Gierke’s Disease
Answer: C) Galactosemia
What dietary component should be supplemented in patients diagnosed with galactosemia?**
- A) Iron
- B) Calcium
- C) Vitamin D
- D) Potassium
- Answer: B) Calcium
Which glycogen storage disease phenotype presents with hypotonia and muscle weakness?**
- A) Glycogen Storage Disease Type VI
- B) McArdle’s Disease (Type V)
- C) Pompe Disease (Type II)
- D) Anderson Disease (Type IV)
Answer:** C) Pompe Disease (Type II)
What is a typical laboratory finding in a child with glycogen storage disease?**
- A) Hypoglycemia
- B) Hyponatremia
- C) Hypercalcemia
- D) Hypokalemia
Answer:** A) Hypoglycemia
Which of the following is an appropriate first-line management step for glycogen storage diseases?**
- A) Initiate chemotherapy
- B) Begin dialysis
- C) Referral to pediatric endocrinology
- D) Consider stem cell transplantation
- Answer: C) Referral to pediatric endocrinology
