Peds Flashcards
Metabolic Disorders ?
Proprionic acidemia
Methylmalonic acidemia
Isovaleric acidemia
3-Methylcrotonyl- CoA-
carboxylase deficiency
3-Hydroxy-3-methyglutaric aciduria
Holocarboxylase synthase deficiency
Beta-ketothiolase deficiency
Glutaric acidemia type I
Fatty Acid Oxidation Disorders ?
Carnitine uptake defect/carnitine transport defect
Medium- chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency
Long-chain L-3 hydroxylacyl-CoA dehydrogenase deficinecy
Trifunctional protein deficiency
Amino Acid Disorders ?
Argininosuccinic aciduria
Citrullinemia, type I
Maple syrup urine disease
Homocystinuria
Classic phenylketonuria
Tyrosinemia, type I
Endocrine Disorders ?
Congenital adrenal hyperplasia
Primary congenital hypothyroidism
Hemoglobinopathies ?
Sickle cell anemia
Beta-thalassemia
S,C disease
Other tests ?
Biotinidase deficiency
Critical congenital heart disease
Cystic fibrosis
Classic galactosemia
Glycogen storage disease, type II
Hearing loss
Severe combined immunodeficiencies
Recommended in infants ?
Born to mothers with gestational diabetes or DM
Large infants (>3969 g)
Small infants (<2608 g)
Premature (<37 weeks)
Smaller twin (sizes are discordant)
Polycythemia (>70% Hct)
Hypothermia
Low apgar scores (<5 at one min, <6 at five minutes)
Stress (sepsis, RDS)
Lead: CDC recommends universal lead screening despite risk factors for children ages _______ and targeted screening for older children at risk.
1 and 2
High levels of lead can cause ?
seizures or coma
Lead: Even blood levels less than __ have been correlated with lower intelligence quotients
10
Lead: < 10 ?
stunt bone growth as a consequence of decreased vit. D metabolsim
Lead: >10 ?
slow cognitive and behavioral development
Lead: >20 ?
delayed nerve conduction
Lead: > 40 ?
decrease hemoglobin synthesis
Lead: > 70 ?
anemia with acute poisoning
Lead: 100-150 ?
encephalopathy
Lead: >380 ?
convulsions, coma, death
Lead Poisoning: ____ mcg/dL is elevated and should be prompt for repeat screening
> 5
Lead Poisoning: >45 mcg/dL = ?
chelation therapy indicated
Lead Poisoning: > 70 mcg/dL = ?
immediate emergent treatment
Most common nutritional deficiency in the US ?
Iron Deficiency Anemia
Iron Deficiency Anemia severe causes ?
Anemia
Behavioral problems
Cognitive effects
Abnormal sleep cycles
Risk factors for IDA ?
Low birth weight
Pregnancy with multiples
IDA in the mother
Use of cow’s milk before 12 months of age
Low iron diet
Chronic illness
Restricted diets
IDA: Universal Screening at __ months by Hgb or Hct
12