inherited metabolic disorders

Question 1

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

Answer 1

unexplained, overwhelming disease

Question 2

consider a metabolic disorder when: child has ____preceded by___

Answer 2

child has acute deterioration of condition preceded by illness

Question 3

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

Answer 3

acidosis or hypoglycemia

Question 4

most inborn errors are?

Answer 4

AR

Question 5

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

Answer 5

hypoglycemia

Question 6

what are some signs of metabolic errors?

Answer 6

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

Question 7

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

Answer 7

fulminant hyperammonemia

Question 8

how to w/u a seizure

Answer 8

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

Question 9

accumulation of unmetabolized phenylalanine

Answer 9

PKU

Question 10

what is phe & tyr a precursor of?

Answer 10

epi, NE, DA

Question 11

dx of PKU is plasma phe____

Answer 11

phe > 20

Question 12

tx of PKU (2)

Answer 12

1. restrict Phe intake

2. use lofenalac formula

Question 13

classic PKU is a deficiency of?

Answer 13

phe hydroxylase

Question 14

malignant hyperphenylalaniemia is?

Answer 14

defective coenzyme for phe hydroxylase

Question 15

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

Answer 15

classic PKU; malignant hyperphenylalaniemia

Question 16

when do sx of PKU start to develop

Answer 16

6 months

Question 17

feeding difficulties, choking spells, vomiting, abnormal neuro development

Answer 17

PKU

Question 18

severe PKU is >____, mild PKU is under____

Answer 18

Phe >1200; Phe under 600

Question 19

incidence of PKU

Answer 19

1:15,000 live births in US

Question 20

what should phe intake be restricted to in PKU?

Answer 20

250-250 mg per day

Question 21

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

Answer 21

throughout life

Question 22

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

Answer 22

360

Question 23

incidence of galactosemia

Answer 23

1:75,000

Question 24

lack of activity of galatose 1 phosphate uridylyltransferase

Answer 24

galactosemia

Question 25

what accumulates in galactosemia

Answer 25

galactose 1 phosphate

Question 26

is PKU or galactosemia physoically normal at birth

Answer 26

both are

Question 27

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

Answer 27

galactosemia

Question 28

dx of galactosemia (2)

Answer 28

1. red cell enzyme tests | 2 urine for reducing substance

Question 29

tx of galactosemia

Answer 29

soy formula

Question 30

kids with galactosemia are at risk for:

Answer 30

developmental delay cataracts premature ovarian failure

Question 31

MCAD deficiency stands for?

Answer 31

medium chain acyl CoA dehydrogenase deficiency

Question 32

which disorder is of FA oxidation?

Answer 32

MCAD

Question 33

onset of MCAD?

Answer 33

4 months-3 yrs

Question 34

inheritance pattern of MCAD

Answer 34

recessive

Question 35

how do MCAD kids present?

Answer 35

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

Question 36

what should patients with urea cycle disorders avoid?

Answer 36

protein

Question 37

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

Answer 37

urea cycle disorders

Question 38

low PCO2, low HCO3

Answer 38

can be organic acidemias or urea cycle disorder

Question 39

how to differentiate organic acidemias or urea cycle disorder

Answer 39

organic acidemias - low pH | urea cycle disorders - high pH