SSC MTS EXAM

Detailed explanation-1: -Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene.

Detailed explanation-2: -Følling concluded that it was derived from dietary phenylalanine and named the condition oligophrenia phenylpyruvica [1, 2, 3, 4]. His discovery was quickly followed by Jervis in the USA [5, 6], and in Britain by Penrose and Quastel who renamed the condition phenylketonuria [7].

Detailed explanation-3: -Hyperphenylalaninemia: the lowest level above normal. Mild PKU: blood levels are mildly elevated. Moderate or variant: levels are not low but not high. Classic PKU: blood levels of phenelalanine are high.