Question

• Deficient Phe hydrolxalase.

• Sxs = MR, vomiting, athetosis, seizures, developmental delay over 1st few mos
• Signs = fair hair, eyes, skin, musty smell.
• Low Phe diet.
A) Maple syrup urine disease
B) Cystic fibrosis
C) Galactosemia
D) Tay-Sachs disease
E) Phenylketonuria (PKU)

Answer 1

Phenylketonuria (PKU) is a metabolic disorder caused by the deficiency of the enzyme phenylalanine hydroxylase. Symptoms include delayed neurological development, seizures, developmental delay, fair hair, eyes, and skin, and a musty smell. Treatment involves adhering to a low phenylalanine diet.

Step-by-step explanation:

Phenylketonuria (PKU) is the disorder described in this question. PKU is a metabolic disorder caused by the deficiency of the enzyme phenylalanine hydroxylase. This enzyme is responsible for breaking down phenylalanine into tyrosine. Without sufficient activity of this enzyme, phenylalanine levels rise to toxic levels in the body, leading to symptoms such as delayed neurological development, seizures, developmental delay, and a musty smell. The main treatment for PKU is following a strict low phenylalanine diet.