06BIS101S2013DomRecLect6

Lrodriguez 11 inborn errors of metabolism inborn

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Unformatted text preview: dioxygenase (HGO). They showed this gene located on chromosome3 (3q21-23), corresponded to the AKU gene and that individuals with alkaptonuria had mutations in HGO . corresponded exons 02/12/14 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez ©2013 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez 11 Inborn Errors of Metabolism Inborn (IBEMs) (IBEMs) ­ 188 “genetic diseases” (inborn errors of metabolism — 188 IBEM) have been identified. IBEM) ­ Since 1962, millions of infants have been screened for Since IBEMs IBEMs ­ Each year, about 7 million US newborns are screened Each for from 4 to 46 IBEMs. for ­ 3000 infants are diagnosed with serious disorders ­ Every state screens for PKU, galactosemia ­ Dietary intervention is the Dietary preferred treatment for PKU and galactosemia. and Newborn Screening for IBEM 02/12/14 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez ©2013 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez 12 Defects in the Tyrosinase Gene on X Chromosome p OC Albinism q 02/12/14 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez ©2013 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez 13 Phenylalanine Pathway and Human Dise...
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