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15 Cards in this Set

  • Front
  • Back
Inborn errors of metabolism:
Caused by absence/def. of a substance essential to cellular metab., usually an enzyme. Asymptomatic for first 24h. Infant inherits defect from both parents (Autosomal recessive).
Congential Hypothyroidism:
Permanent def. of thyroid hormone. Usually causes down's syndrome.
S/S of Congential Hypothyroidism: (newborn)
Lethargic, poor feeding ablitities, resp. problem, horse-sounding cry, ususally born after 40wks, "good babies". Symptoms may be delayed if BF
S/S of Con. Hypothyroidism: (6wks)
Depressed nasal ridge, short forehead, puffy eyes, lg. tongue, thick, cool dry skin, dry coarse hair.
-Ab. distention
-Severe mental retardation
-Bone age retardation
Diag. Eval. for Con. Hypothyroidism:
Mandantory. Low T4 and high TSH
Tx. of Con. Hypothy.:
Synthroid (for life).
Phenylketonuria (PKU):patho
Genetic disease that results in the body's inability to metablize phenylalinine, increase levels of it= CNS damage
S/S of PKU:
-Failure to thrive
-Freq. vomiting
-Unpredictable bizarre behavior
-Must odor in urine/sweat
-Light skin blue eyes
PKU Tx.:
eat only juices, fruits, veggies, breads, pastas
Autosomal recessive. Absence of enzyme galactose-> cant breakdown galactose into glucose. High levels of galactose are extremely toxic to kidneys lever and NS.
S/S of Galactosemia:
-Liver dis. fn.
-Spleen enlargement
-Brain damage
death if untreated
Tx. of Gala.:
No milk!! Elimination of lactose containing food including breast milk
-Other (hep., parvovirus, varicella)
collection of peritoneal fluid in testicle, usually will disappear
urethral opening on underside of penis, may look like ambiguous genitalia, surgery