After teaching a class about inborn errors of metabolism, the ...

[Evvie72]

After teaching a class about inborn errors of metabolism, the instructor determines that additional teaching is needed when the class identifies which of the following as an example of an inborn error of metabolism?
 
  A) Galactosemia
  B) . Maple syrup urine disease
  C) Achondroplasia
  D) Tay-Sachs disease

Question 2

When performing a physical examination on a small child, the nurse observes approximately 8 to 10 light-brown spots concentrated primarily on the trunk and extremities, two small lumps on the posterior trunk, and axillary freckling.
 
  The nurse interprets these findings to suggest which of the following? A) Klinefelter syndrome
  B) Neurofibromatosis
  C) Fragile X syndrome
  D) Sturge-Weber syndrome

[TDubDCFL]

Answer to Question 1

C
Response:
Achondroplasia is an autosomal dominant genetic disorder, not an inborn error of metabolism. Galactosemia, maple syrup urine disease, and Tay-Sachs are considered inborn errors of metabolism.

Answer to Question 2

B
Response:
The hallmark of neurofibromatosis is caf-au-lait spots appearing all over the body, particularly the trunk and extremities. Additional findings include benign tumors, axillary freckling, and pigmented nevi. Klinefelter syndrome is associated with a lack of secondary sex characteristics, decreased facial hair, gynecomastia, decreased pubic hair, and hypogonadism. Fragile X syndrome is manifested by minor dysmorphic features and developmental delay. Sturge-Weber syndrome is associated with facial nevus, seizures, hemiparesis, and intracranial calcifications.