inherited metabolic disorders Flashcards
consider a metabolic disorder when: neonates have _____after a normal pregnancy
unexplained, overwhelming disease
consider a metabolic disorder when: child has ____preceded by___
child has acute deterioration of condition preceded by illness
consider a metabolic disorder when: children have signs of____ or ____
acidosis or hypoglycemia
most inborn errors are?
AR
somnolence, lethargy, poor feeding, tremulousness, perspiration, seizures in newborns?
hypoglycemia
what are some signs of metabolic errors?
- hypoglycemia
- metabolic acidosis
- hyperammonia
- seizures
lethargy, somnelence, vomiting, grunting respiration, seizures within first few weeks of life
fulminant hyperammonemia
how to w/u a seizure
- check electrolytes, glu, NH3
- blood, urine, CSF cultures
- head CT
accumulation of unmetabolized phenylalanine
PKU
what is phe & tyr a precursor of?
epi, NE, DA
dx of PKU is plasma phe____
phe > 20
tx of PKU (2)
- restrict Phe intake
2. use lofenalac formula
classic PKU is a deficiency of?
phe hydroxylase
malignant hyperphenylalaniemia is?
defective coenzyme for phe hydroxylase
diet restrictions of phe can tx ____, but does not tx____
classic PKU; malignant hyperphenylalaniemia
when do sx of PKU start to develop
6 months
feeding difficulties, choking spells, vomiting, abnormal neuro development
PKU
severe PKU is >____, mild PKU is under____
Phe >1200; Phe under 600
incidence of PKU
1:15,000 live births in US
what should phe intake be restricted to in PKU?
250-250 mg per day
how long does phe restricted diet of PKU need to be maintained
throughout life
if maternal levels Phe >____, then microcephaly, low birth weight, mental retardation
360
incidence of galactosemia
1:75,000
lack of activity of galatose 1 phosphate uridylyltransferase
galactosemia
what accumulates in galactosemia
galactose 1 phosphate
is PKU or galactosemia physoically normal at birth
both are
vomiting, diarrhea, HSM, jaundice, anemia, cataracts, susceptibility to gram neg sepsis
galactosemia
dx of galactosemia (2)
- red cell enzyme tests
2 urine for reducing substance
tx of galactosemia
soy formula
kids with galactosemia are at risk for:
developmental delay
cataracts
premature ovarian failure
MCAD deficiency stands for?
medium chain acyl CoA dehydrogenase deficiency
which disorder is of FA oxidation?
MCAD
onset of MCAD?
4 months-3 yrs
inheritance pattern of MCAD
recessive
how do MCAD kids present?
after fasting (ie. illness or sleep), they vomit, and then before almost comatose
what should patients with urea cycle disorders avoid?
protein
chronic nausea, behavioral problems, FTT, HA, abdominal pain, abnormal hair, spastic diplegia
urea cycle disorders
low PCO2, low HCO3
can be organic acidemias or urea cycle disorder
how to differentiate organic acidemias or urea cycle disorder
organic acidemias - low pH
urea cycle disorders - high pH
