amino acids?

Question

phenylalanine catabolism & disorders

Answer 1

Phenylketonuria (PKU) is most common in all white populations and relatively less common among Ashkenazi Jews, Chinese, and blacks. Inheritance is autosomal recessive; incidence is about 1/10,000 births among whites.

Excess dietary phenylalanine (ie, that not used for protein synthesis) is normally converted to tyrosine by phenylalanine hydroxylase; tetrahydrobiopterin (BH4) is an essential cofactor for this reaction. When one of several gene mutations results in deficiency or absence of phenylalanine hydroxylase, dietary phenylalanine accumulates; the brain is the main organ affected, possibly due to disturbance of myelination. Some of the excess phenylalanine is metabolized to phenylketones, which are excreted in the urine, giving rise to the term phenylketonuria. The degree of enzyme deficiency, and hence severity of hyperphenylalaninemia, varies among patients depending on the specific mutation.

Answer 2

a person who has an inborn err in metabolism where they cannot break down this amino acid can lead to brain damage. The condition is known as PKU