priorBiochemGenetics

priorBiochemGenetics - of the affected alleles in...

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2 Phenylketonuria Most common disorder of amino acid metabolism Autosomal Recessive Incidence ~ 1/15,000 in Caucasians Mental retardation (ave IQ < 40), seizures, autism, decreased Pigmentation
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3 Criteria for Newborn Screening Not detectable at birth Major health problem Treatment is Available Cost Effective Reliable Methods
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4 Guthrie Bacterial Inhibition Test
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5 Maple Syrup Urine Disease Maternal PKU Cofactor BH4 Disorder
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6 Molecular Genetics PAH gene has been cloned, Chromosome 12 90 kb, 13 exons ¾ 100 mutations, mostly point mutations Most patients are compound heterozygotes Some mutations in linkage disequilibrium Some genotype/phenotype correlations
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7 Galactosemia Autosomal Recessive Incidence 1/60,000 Symptoms present soon after ingesting milk based formula or breast milk: gastrointestinal Untreated: cataracts cirrhosis of the liver and irreversible Brain damage
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9 Molecular Genetics of Galactosemia Chromosme 9 Single missense mutation Q188R accounts for 70%
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Unformatted text preview: of the affected alleles in Caucasians, and 16% of African Americans N319D is Duarte allele Tay-Sachs Disease Autosomal recessive lipid storage disease Incidence 1/100,00; in Ashkenazi Jewish population 1/4,000 Normal at birth;onset between 6-12 months: paralysis, blindness, seizures, spasticity Death by age 2-5 10 11 Criteria for Carrier Screening Clinically significant disorder with no effective treatment High risk population Genetic Counseling Available Accurate and inexpensive tests Reproductive Options Available 12 Lesch-Nyhan Syndrome Defect in purine and pyrimidine metabolism Hypoxanthine-guanine phosphoribosyltransferase deficiency (HPRT) X-linked, incidence 1/400,000 Clinical: mental retardation, spasticity, gouty arthritis, self mutilation; milder variants with partial enzyme activity for gout 13...
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  • Spring '05
  • BURGHES
  • Phenylketonuria, Maple Syrup Urine Disease, galactosemia, Autosomal Recessive Incidence, metabolism Autosomal Recessive

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priorBiochemGenetics - of the affected alleles in...

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