Metabolic Disorders

Question 1

Phenylketonuria eti, s/s

Answer 1

• autosomal recessive defective conversion of phenylalanine to tyrosine
• phenylalanine is in breast milk & standard formulas
• cog disability, epilepsy, abnml gait/posture/stance, “mousy” urine/body odor, eczematous rash

Question 2

phenylketonuria wu, mgmt

Answer 2

• high serum phenylalanine

- dietary restriction & monitoring levels (phenylalanine & tyrosine)

Question 3

Hyperbilirubinemia = jaundice

Answer 3

• common in newborn (w/in 3-4 days of birth, resolves 1-2 wks)
• w/in 1st 24 hr = worrisome (encephalopathy, kernicterus)

Question 4

RF of jaundice

Answer 4

• major: inf < 35 wks gest (high total bili, w/in 1st 24 hrs), inf 35-36 wks (prev sib got phototx, sx)
• minor: inf 37-38 wks (b4 d/d, prev sib, macrosomic, DM mom, maternal age > 25, male)

Question 5

Jaundice progression (skin)

Answer 5

face, chest abd, arms, legs

Question 6

jaundice screening

Answer 6

• routine, prior to d/c

- f/u appt in 3 days for inf < 24 hrs of birth

Question 7

jaundice mgmt

Answer 7

• compare total bili percentiles (Bhutani nomogram)

- admit for phototx prn or for xchange transfusion (phototx fail, signs of neuro dysfxn)

Question 8

“breast milk jaundice”

Answer 8

1st wk s/p birth, peak at 2 wk, not dangerous (immature liver/intestines)