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18 Cards in this Set
- Front
- Back
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Most inborn errors are inherited as
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Autosomal recessive or X-linked disease
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Mutations of genes encoding PAH causes low levels of phenylalanine hydroxylase
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PKU Phenylketonuria
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People with PKU can't convert Phenylalanine into
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Tyrosine
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A deficiency in phenylalanine hydroxylase or what 2 components can cause PKU
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BH4 or Dihydropteridine reductase
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An autosomal recessive disorder of galactose metabolism resulting from a total lack of Galactose-1-uridyl transferase
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Galactosemia
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In galactosemia, due to the lack of galactose-1-uridyl transferase, what accumulates?
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Glucose-1-phosphate
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What 3 parts of the body are most affected by galactosemia
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Liver, Brain, Eyes
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Diagnosis of galactosemia can be suspected by the demonstration of what in the urind
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a reducing sugar other than glucose
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A disorder of ion transport in epithelial cells that affects fluid secretion in exocrine glands and the epithelial lining of the respiratory and GI and reproductive tracts
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Cystic Fibrosis
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Cystic fibrosis is an autosomal _____ disorder but heterozygotes are still affected
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recessive
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The interaction of CFTR with what channel has possibly the MOST pathologic relevance in CF
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EnaC - epithelial sodium channel
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What are the two best known examples of genes that, when mutated cause the pulmonary symptoms of CF
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MBL2 mannose binding lectin2
TGFB1 Transforming Growth Factor B1 |
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In CF the static mucous in the airway surface fluid favors the production of this muoid polysaccharide capsule
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Alginate
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Alginate permits the formation of a biofilm that protects
a. bacteria b. lung tissue |
Bacteria
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____ abnormalities are found in 85-90% of CF patients
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Pancreati
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Intestines in infants can be plugged by mucus causing SI obstruction and so called
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Meconium ileus
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By 18, 80% of patients with classic CF harbor what bacteria
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P. Aeruginosa
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The "gold standard" for diagnosis of CF is
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Sequencing the CFTR gene
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