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Special Pops - Peds > Inborn Errors of Metabolism and Nutrition > Flashcards

Inborn Errors of Metabolism and Nutrition Flashcards

1
Q

What criteria should a genetic screening program fulfill?

A
  1. Tested disorder is prevalent and serious
  2. The disorder can be pre-symptomatically impacted through lifestyle changes, screening, meds or other risk-reducing interventions
  3. Identification of risk does not result in undue discrimination or harm
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2
Q

When should inborn errors of metabolism be suspected?

A
  1. Child’s symptoms accompany changes in diet
  2. Child’s development decreases
  3. Notable specific food preferences/aversions
  4. Fam hx of retardation or unexplained deaths in 1st and 2nd degree relatives
  5. Present w/sepsis like symptoms
  6. Recurrent hypoglycemia
  7. Neuro syndromes
  8. Unexplained acidosis
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3
Q

What is phenylketonuria?

A
  • AA metabolism disorder with decreased conversion of phenylalanine to tyrosine
  • Autosomal recessive
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4
Q

Clinical presentation of PKU in infants

A
  • Severe mental retardation (IQ 30)
  • Hyperactivity
  • Seizures
  • Light complexion, blond
  • Eczema
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5
Q

What results in the best outcome of PKU in infants?

A

Elimination diet started in 1st month of life

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6
Q

Treatment of PKU

A
  • Regulation of maternal hyperphenylalaninemia prior to conception and throughout pregnancy to prevent fetal damage
  • After birth, phenylalanine deficiency diet to maintain low levels (under 6 mg/dL)
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7
Q

What is galactosemia?

A
  • Autosomal recessive d/o of metabolism

- Inability to metabolize galactose

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8
Q

Clinical presentation of galactosemia

A
  • Vomiting
  • Jaundice
  • Hepatomegaly
  • Rapid onset of liver insufficiency after starting milk feeding
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9
Q

Treatment of galactosemia

A
  • Avoidance of galactose for life (use soy milk)

- Calcium replacement

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10
Q

What is maple syrup urine disease?

A
  • Autosomal recessive d/o of metabolism
  • Deficiency of an enzyme that processes certain AAs (leucine, isoleucine, valine)
  • Results in ketoaciduria
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11
Q

Clinical presentation of maple syrup urine disease

A
  • Normal at birth

- 1 week later will develop feeding difficulties, coma, seizures

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12
Q

Treatment of maple syrup urine disease

A

Dietary leucine restriction

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13
Q

What is homocystinuria?

A
  • Autosomal recessive d/o of metabolism
  • Deficiency of CBS (enzyme)
  • 50% of untreated pts are mentally retarded
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14
Q

Treatment of homocystinuria

A
  • Large oral doses of pyridoxine (50% respond)

- Females must avoid OCPs (higher risk for coagulopathy)

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15
Q

What is nonketotic hyperglycinemia?

A
  • Autosomal recessive d/o of metabolism
  • Deficiency of glycine cleavage enzyme subunits
  • Most pts will develop severe mental retardation and seizures
  • Treat w/Na benzoate and dextromethorphan (or ketamine)
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16
Q

Define organic acidemia

A
  • Disorders of AA and FA metabolism
  • Nonamino organic acids accumulate in serum and urine
    (example: maple syrup urine disease)
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17
Q

Example of an organic acidemia?

A

Maple syrup urine disease

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18
Q

How are fatty acid oxidation disorders treated?

A

Prevention of hypoglycemia (avoid prolonged fasting 8-12 hrs)

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19
Q

What is Smith-Lemli-Opitz syndrome?

A
  • Autosomal recessive d/o of metabolism

- Deficiency of an enzyme

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20
Q

How do disorders of neurotransmitter metabolism present?

A
  • Movement disorders
  • Seizures
  • Abnormal tone
  • Mental retardation
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21
Q

Between birth and 4 months, what accounts for 40% of weight gain?

A

Fat

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22
Q

Between birth and 4 months, fat accounts for how much weight gain? How much between 24-36 months, ideally?

A

40% in infancy

Only 3% from 24-36 months

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23
Q

What are reliable indices of caloric needs in most healthy children?

A

Appetite and growth

24
Q

What does optimal growth of an infant require?

A

Adequate dietary supply of protein (body does not store protein)

25
Q

As growth decreases, so does the need for:

A

Protein

26
Q

When do protein needs decrease?

A

As growth rates decrease

27
Q

When do protein needs increase?

A
  • Skin or gut losses
  • Burns
  • Traumas
  • Infections
28
Q

What is the main dietary energy source for infants?

A

Fats

29
Q

What accounts for 50% of the energy in human milk?

A

Fats

30
Q

What are fats required for in infant development?

A
  • Myelination of CNS

- Brain development

31
Q

How much dietary fat should children over 2 yo intake?

A

Decrease to 30% calories from fat (main source as an infant)

32
Q

Clinical presentation of omega 6 deficiency in infants

A

-Growth failure
-Erythematous and scaly dermatitis
-Thrombocytopenia
etc etc

33
Q

Most fatty acids in breast milk are:

A

Omega 6

34
Q

Clinical presentation of omega 3 deficiency in infants

A

Less defined than omega 6 deficiency

  • Dermatitis
  • Neuro abnormalities (blurred vision, peripheral neuropathy, weakness)
35
Q

Lactose in breast milk compared to cow’s milk

A
  • 40% of caloric intake in breast milk is lactose

- 20% in cow’s milk

36
Q

Lactase levels in infancy?

A

Highest in infancy, decline with age

37
Q

When are lactase levels highest?

A

In infancy - decline with age

38
Q

After age 2, most of caloric intake should be what?

A

Carbs (50-60% of intake) but NOT more than 10% simple sugars

39
Q

Describe fructose

A
  • Real problem for our diet
  • Does NOT stimulate insulin secretion or enhance leptin production
  • So may contribute to increased energy intake and weight gain
40
Q

What are fat soluble vitamins?

A

A D E K

deficiencies occur more slowly due to body storage with fat

41
Q

What is Vitamin D needed for?

A

Ca absorption

42
Q

Benefits of breast feeding

A
  • Immunologic factors
  • Protection against URIs, GI infections
  • Decreases risk of atopic dermatitis and cow’s milk allergy
  • Maternal calories used (help to get to pre-pregnancy wt)
  • Mother/baby bonding (uninterrupted time)
43
Q

When is the fastest growth as a child? What is the growth rate?

A

1st year

  • Body wt doubles by 3-4 mos
  • Triples by 12 months
44
Q

Contraindications to breast feeding

A

RARE

  • TB in mother
  • Galactosemia
45
Q

Potential risk of breast feeding

A

Maternal to child HIV transmission (if cracking of nipple causes blood exposure)
-In undeveloped countries, the protection against diarrhea and malnutrition outweigh the risk

46
Q

Obstacles that mothers face with breast feeding

A
  • Difficult to do once returning to work
  • Meds can be passed through the milk
  • Social barriers (public areas, space available)
47
Q

Using formula instead of breast feeding?

A
  • Acceptable alternative

- BUT at least attempt breast feeding the first couple weeks for the immunologic benefits

48
Q

Delaying the introduction of certain foods past 6 months to prevent allergies, eczema or asthma?

A

NOT been shown to prevent any of these

49
Q

When do infants start to use finger foods (pincer grasp)?

A

7-10 months

50
Q

How many exposure attempts can it take before an infant accepts a new food?

A

Sometimes takes 10-15 attempts

51
Q

Define failure to thrive

A

Weight curve has fallen by 2 major percentile channels OR weight for length decreases below 5th percentile

52
Q

Define wasting

A

Reduced weight for height

53
Q

Define stunting

A

Reduction in height for age with chronic malnutrition

54
Q

What should always be considered with undernutrition?

A

Neglect, abuse, mental illness

55
Q

What could tube feedings in underweight infants cause?

A

Over-satiation - which will likely delay transition to oral nutrition

56
Q

If TPN in an infant is necessary, what should be done?

A

Every effort made to provide at least a minimum of nutrients ENTERALLY (to preserve integrity of GI mucosa and function)

57
Q

Why should enteral nutrition always be considered first over TPN?

A

It preserves GI mucosa and function

Special Pops - Peds (10 decks)

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