Review Metabolic Disorders

Question 1

What is the purpose of Newborn Screening for Metabolic disorders? How are they accomplished?

Answer 1

The purpose of Newborn Screening for metabolic disorders is to be preemptive in IDing kids who may have metabolic disorder. They are accomplished by drawing blood via a heel stick test.

Question 2

What causes most metabolic disorders?

Answer 2

Most metabolic disorders are caused by a defect in an enzyme or transport protein.

Question 3

What is a metabolic disorder?

Answer 3

A genetic error that results in a block in a metabolic pathway. Could be autosomal recessive or autosomal dominant.

Question 4

Identify the three different situations that can occur related to the actions of enzymes in the metabolic process

Answer 4

1) Deficiency in the amount of enzyme 2) No enzyme present 3) mis-folded enzyme

Question 5

Identify the symptoms the infant with a metabolic disorder may display

Answer 5

Lethargy, vomiting, respiratory distress, and seizures

Question 6

Identify the severe possible consequences for the child with a metabolic disorder.

Answer 6

Severe possible consequences for the child with a metabolic disorder includes intellectual and developmental disabilities and death.

Question 7

Identify the nutrition management interventions for the treatment of metabolic disorders

Answer 7

1) Restrict dietary products 2) Replace needed products failed to be produced 3) Do both!

Question 8

Identify the three goals of MNT for the patient with a metabolic disorder.

Answer 8

1) Prevent accumulation of products 2) Replace essential nutrients that are deficient 3) Provide a diet for growth and development

Question 9

Identify the enzyme which is deficient in the child with PKU. What is the role of the enzyme?

Answer 9

Phenylalanine Hydroxylase (PAH). It is responsible for converting phenylalanine to tyrosine. PKU is an autosomal recessive disorder

Question 10

What is the consequence of PKU?

Answer 10

PKU causes an excess of phenylalanine, which damages the nervous system. Also make Tyrosine conditionally essential

Question 11

Identify the signs/symptoms of undetected PKU: shortly after birth, at 3-6 months, and at 12 months.

Answer 11

Shortly after birth: Skin rash, mousy odor, and light skin pigment. 3-6 months - signs of developmental delay 12 months - irreversible brain damage.

Question 12

Which two amino acids are the focus for the dietary treatment of PKU. Identify which one is restricted/controlled and which one needs to be supplemented and why?

Answer 12

Phenylalanine is restricted/controlled; Tyrosine needs to be supplemented because PAH doesn’t convert

Question 13

Why are beverages/foods containing aspartame not appropriate for individuals with PKU?

Answer 13

Aspartame is made up of phenylalanine and aspartic acid. Not healthy for people with PKU

Question 14

Identify the dietary treatment for fructosemia. What organ is potentially damaged with this condition?

Answer 14

A: Limit fructose, sucrose and restrict sorbitol (fruit, fruit juices) B: High risk of hypoglycemia C: Liver damage

Question 15

What enzyme is associated with fructosemia?

Answer 15

1 - phosphofructoaldolase

Question 16

What is glycogen storage disease? What symptom has the potential to cause severe damage?

Answer 16

A: 8 types - Type I the most common( Can’t store or breakdown glycogen) B: hypoglycemia is the huge problem that causes a lot of side effect.

Question 17

Symptoms, treatment, and dx of glycogen storage disease

Answer 17

S: Hepatomegaly, poor growth, osteoporosis Tx: frequently oral feeding high in carbohydrate dx: 4 - 10 months of age

Question 18

What is the goal MNT for glycogen storage disease and what role does cornstarch play?

Answer 18

A: Goal: keep blood glucose above 70 mg/dL and maintain normal blood glucose level. B: Cornstarch is important because it is digested slowly and maintains for 3-6 hours or longer at a time.

Question 19

Describe when the first episode usually occurs in a child with Medium-chain acyl-CoA dehydrogenase deficiency (MCAD). What is the metabolic issue in MCAD? What is the treatment for MCAD?

Answer 19

Similar to glycogen storage disorder lack MCAD enzyme converts ( Fats to energy when glucose gone); The first episode often occurs in response to an illness or is commonly experienced when they begin to sleep longer through the night ( range: two months to two years)

Question 20

Tx MCAD

Answer 20

Tx: high carbohydrates, avoid being without food for more 10 - 12 hours/ IV dextrose when cannot consume food.

Question 21

Death occurrence for MCAD

Answer 21

25% die in their first crisis and 50% of crisis if occurs after the age of two.