inherited disorders involving recessive and dominant alleles Flashcards
metabolic disease that is
caused by a buildup of Phenylalanine in the body due to an enzyme deficiency, particularly the hepatic enzyme Phenylalanine Hydroxylase (PAH).
PHENYLKETONURIA (PKU)
Most commonly occurring in
children, that results in progressive
destruction of the nervous system.
TAY-SACHS DISEASE (TSD)
People with ——– can not convert the amino acid Phenylalanine to Tyrosine due to a mutation in the gene that codes for PAH.
PHENYLKETONURIA (PKU)
caused by the absence of a vital
enzyme called hexosaminidase-A
(Hex-A).
● TAY-SACHS DISEASE (TSD)
—– is caused by an inherited detect in a single gene (HTT). —— is an autosomal dominant disorder, a person needs only one copy of the defective gene.
Huntington’s disease
Huntington’s disease isnt expressed until when?
mid-life