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12 Cards in this Set

  • Front
  • Back
PKU
# Type of D/O
# Method of inheritance
# When it manifests
# how it manifests
# Dx
# Tx
# Error in amino acid metabolism- deficiency in enzyme phenylalanine hydroxylase which converts Phe to Tyr causing a build up of toxic metabolites of Phe
# Autosomal recessive
# seen in childhood
# neurological problems (MR, hypertonicity, tremors, behavioral problems) and hypopigmentation
# Infant screen
# avoid phenylalanine
Homocystinuria
# Type of D/O
# Method of inheritance
# When it manifests
# how it manifests
# Dx
# Amino acid metabolism- deficiency in cystathione synthetase which converts methionine to cysteine and serine
# auto recessive
# Childhood
# Marfanoid sx, dislocated lenses, MR, vascular thrombosis leading to stroke or MI
# infant screen
# diet
Galactosemia
# Type of D/O
# Method of inheritance
# When it manifests
# how it manifests
# Dx
# CHO metabolism- deficiency in galactose-1-phosphate uridyle transferase resulting in impaired conversion of glactose-1-phosphate to glucose-1-phosphate
# manifests days to weeks after initiation of milk feeding
# liver failure, renal problems, FTT, cataracts, E. coli spesis
# elev LFTs, elev direct bili, prolonged PT & PTT, hypoglyc, hypoalb
# eliminate galactose
Von Geierke
# type of dz
# method of inheritance
# pathobiology
# presentation
# Glycogen storage dz
# Auto-recessive
# Glucose-6-phosphatase deficiency affecting liver, kidney, GIT, platelets
# neonatal hypoglycemia, lactic acidemia; later hepatomegaly, hypotonia, slow growth diarrhea, bleeding
Pompe
# type of dz
# method of inheritance
# pathobiology
# presentation
# GSD, type 2
# Auto-recessive
# lysosomal alpha-glucosidase affecting all organs, esp striated musle and nerve cells
# neonatal: muscle weakness, cardiomegaly; symmetric profound weakness, cardiomegaly, heart failure, shortened PR interval
McArdle
# type of dz
# method of inheritance
# pathobiology
# presentation
# GSD, type 5
# Auto-recessive
# deficiency in liver phosphorylase affecting muscle
# neonatal: none; muscle fatigue beginning in adolescence
Ornithine Transcarbamylase Deficiency
# Type of D/O
# Method of inheritance
# When it manifests
# how it manifests
# Dx
# Tx
# Urea cycle defect/processing ammonia- inability to form citrulline from ornithine and carbamylphosphate
# X-linked
# manifests w/i 24-48 hrs of starting protein containing feedings
# neonate becomes progressively lethargic, develops seizures, MR, learning disabilities
# measure levels of orotic acid in urin
# low fat diets
Fragile X
# Type of D/O
# Method of inheritance
# When it manifests
# how it manifests
# Dx
# Tx
Mental retardation
# X-linked
# infant w/ big head, large jaw and ears; severe delay in language; big testicles at puberty
# genetic analysis
# none
Cru-du-chat
# type of abnormality
# manifestations
# chromosomal structural defect- deletion of 5p (short arm)
# microcephaly, MR, cat-like cry, cataracts, optic atrophy
Prader-Willi
# type of abnormality
# manifestations
# chromosomal structural defect- deletion of 15q or translocation, maternal disomy
# narrow bifrontal diameter, almond-0shaped pappebral fissures, down-turned mouth, short stature, appetite dysregulation causing obesity, developmental delay and MR
Edwards syndrome
# trisomy 18
Microcephaly, prominent occiput, micrognathia, closed fists with index finger over-lapping the 3rd finger and 5th finger overlapping the 4th, and rocker bottom feet
Friedreich Ataxia
# Auto recessive- tri-nucleotide repeats
# necrosis of cardiac muscle fibers leading to myocarditis, myocardial fibrosis, and CDM as evidenced by TWI on ECG