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Flashcards in inherited metabolic disorders Deck (39)
1

consider a metabolic disorder when: neonates have _____after a normal pregnancy

unexplained, overwhelming disease

2

consider a metabolic disorder when: child has ____preceded by___

child has acute deterioration of condition preceded by illness

3

consider a metabolic disorder when: children have signs of____ or ____

acidosis or hypoglycemia

4

most inborn errors are?

AR

5

somnolence, lethargy, poor feeding, tremulousness, perspiration, seizures in newborns?

hypoglycemia

6

what are some signs of metabolic errors?

1. hypoglycemia
2. metabolic acidosis
3. hyperammonia
4. seizures

7

lethargy, somnelence, vomiting, grunting respiration, seizures within first few weeks of life

fulminant hyperammonemia

8

how to w/u a seizure

1. check electrolytes, glu, NH3
2. blood, urine, CSF cultures
3. head CT

9

accumulation of unmetabolized phenylalanine

PKU

10

what is phe & tyr a precursor of?

epi, NE, DA

11

dx of PKU is plasma phe____

phe > 20

12

tx of PKU (2)

1. restrict Phe intake
2. use lofenalac formula

13

classic PKU is a deficiency of?

phe hydroxylase

14

malignant hyperphenylalaniemia is?

defective coenzyme for phe hydroxylase

15

diet restrictions of phe can tx ____, but does not tx____

classic PKU; malignant hyperphenylalaniemia

16

when do sx of PKU start to develop

6 months

17

feeding difficulties, choking spells, vomiting, abnormal neuro development

PKU

18

severe PKU is >____, mild PKU is under____

Phe >1200; Phe under 600

19

incidence of PKU

1:15,000 live births in US

20

what should phe intake be restricted to in PKU?

250-250 mg per day

21

how long does phe restricted diet of PKU need to be maintained

throughout life

22

if maternal levels Phe >____, then microcephaly, low birth weight, mental retardation

360

23

incidence of galactosemia

1:75,000

24

lack of activity of galatose 1 phosphate uridylyltransferase

galactosemia

25

what accumulates in galactosemia

galactose 1 phosphate

26

is PKU or galactosemia physoically normal at birth

both are

27

vomiting, diarrhea, HSM, jaundice, anemia, cataracts, susceptibility to gram neg sepsis

galactosemia

28

dx of galactosemia (2)

1. red cell enzyme tests
2 urine for reducing substance

29

tx of galactosemia

soy formula

30

kids with galactosemia are at risk for:

developmental delay
cataracts
premature ovarian failure

31

MCAD deficiency stands for?

medium chain acyl CoA dehydrogenase deficiency

32

which disorder is of FA oxidation?

MCAD

33

onset of MCAD?

4 months-3 yrs

34

inheritance pattern of MCAD

recessive

35

how do MCAD kids present?

after fasting (ie. illness or sleep), they vomit, and then before almost comatose

36

what should patients with urea cycle disorders avoid?

protein

37

chronic nausea, behavioral problems, FTT, HA, abdominal pain, abnormal hair, spastic diplegia

urea cycle disorders

38

low PCO2, low HCO3

can be organic acidemias or urea cycle disorder

39

how to differentiate organic acidemias or urea cycle disorder

organic acidemias - low pH
urea cycle disorders - high pH