Question 1

How are most inborn errors of metabolism identified?&#10;A) MS/MS newborn screening&#10;B) Clinical symptoms&#10;C) by the pediatrician&#10;D) All of these

Accepted Answer

Most inborn errors of metabolism are identified by MS/MS newborn screening, clinical symptoms, and by the pediatrician.

Question 2

What is the goal range for blood phenylalanine levels in patients with PKU?&#10;A) 0-120 umol/L&#10;B) 60-90 umol/L&#10;C) 120-360 umol/L&#10;D) 400-600 umol/L

Accepted Answer

The goal range for blood phenylalanine levels in patients with PKU (Phenylketonuria) is typically 120-360 umol/L to prevent neurological damage while ensuring adequate growth and development.

Question 3

Identify several metabolic formulas appropriate to use with a newly diagnosed infant with PKU.&#10;A) Ketonex, Phenex&#10;B) Cyclinex, Ketonex&#10;C) Glutarex, Ketonex&#10;D) Periflex Early Years, Phenex 1

Accepted Answer

D

Question 4

What is the recommended treatment dose range for PKU patients taking Kuvan?&#10;A) 10-20 mg/kg/day&#10;B) 20-30 mg/kg/day&#10;C) 30-50 mg/kg/day&#10;D) 60-70 mg/kg/day

Accepted Answer

The recommended treatment dose range for PKU patients taking Kuvan is 10-20 mg/kg/day.

Question 5

What are the branch chain amino acids (BCCA)?&#10;A) phenylalanine, isoleucine, valine&#10;B) Leucine, Isoleucine, and valine&#10;C) Isoleucine, valine, tyrosine&#10;D) Leucine, valine, tyrosine

Accepted Answer

Leucine, Isoleucine, and valine are the three branched-chain amino acids (BCAAs).

Question 6

The branch chain amino acids are restricted with Maple Syrup Urine disease (MSUD).

Accepted Answer

Maple Syrup Urine Disease (MSUD) is a metabolic disorder where the body cannot properly break down branched-chain amino acids (leucine, isoleucine, and valine), leading to their accumulation.

Question 7

In most metabolic disorders are total energy needs increased?

Accepted Answer

In most metabolic disorders, the body's ability to produce energy is impaired, leading to increased energy needs.

Question 8

In which group of metabolic disorders is the overall total protein/kg/day restricted?&#10;A) PKU&#10;B) MCAD&#10;C) Glutaric acidemia type 1&#10;D) Urea cycle disorders

Accepted Answer

In urea cycle disorders, protein intake is restricted to prevent the accumulation of ammonia, which the body cannot effectively eliminate due to enzyme deficiencies in the urea cycle.

Question 9

In patients that have a FAOD why is avoiding fasting (going to long in between feedings) important with young infants or when patients are ill and not eating well?&#10;A) To meet their protein needs&#10;B) To provide vitamin supplementation&#10;C) To prevent hypoglycemia&#10;D) To meet MCT needs

Accepted Answer

Avoiding fasting is crucial in patients with fatty acid oxidation disorders (FAOD) to prevent hypoglycemia, as they cannot effectively break down fatty acids for energy, especially during fasting or illness.

Question 10

In long chain fat restricted diets, which supplements are most important to prevent deficiency?&#10;A) Essential fatty acids&#10;B) Vitamins&#10;C) Minerals&#10;D) Protein

Accepted Answer

Essential fatty acids are crucial in long chain fat restricted diets to prevent deficiency, as they cannot be synthesized by the body and must be obtained through diet or supplements.

Deck 26: Nutrition Management in Inborn Errors of Metabolism