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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Cru-du-chat
# type of abnormality # manifestations |
# chromosomal structural defect- deletion of 5p (short arm)
# microcephaly, MR, cat-like cry, cataracts, optic atrophy |
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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 |
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Edwards syndrome
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# 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 |
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Friedreich Ataxia
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# Auto recessive- tri-nucleotide repeats
# necrosis of cardiac muscle fibers leading to myocarditis, myocardial fibrosis, and CDM as evidenced by TWI on ECG |