Genetic Diseases • Autosomal Recessive Diseases – PKU (phenylketonuria) caused by a recessive allele found on Chromosome 12 • Causes accumulation of phenylalanine in brain tissue causing mental retardation • Early identification leads to modification of dietary intake – Part of the newborn screening program – Tay-Sachs • Degenerative nervous tissue disease leading to death in the first year of life – Part of the newborn screening program
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Genetic Diseases Autosomal Recessive Diseases – PKU (phenylketonuria) caused by a recessive allele found on Chromosome 12 Causes accumulation of phenylalanine.
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Genetic Diseases
• Autosomal Recessive Diseases– PKU (phenylketonuria) caused by a
recessive allele found on Chromosome 12• Causes accumulation of phenylalanine
in brain tissue causing mental retardation
• Early identification leads to modification of dietary intake– Part of the newborn screening program
– Tay-Sachs• Degenerative nervous tissue disease
leading to death in the first year of life– Part of the newborn screening program