The most likely diagnosis is Phenylketonuria (PKU). Option E is correct
Deficient Phe hydroxylase is the key enzyme involved in PKU. When it is deficient, phenylalanine, an essential amino acid, cannot be properly broken down in the body.
MR, vomiting, athetosis, seizures, developmental delay are all symptoms associated with PKU, which can appear within the first few months of life. Fair hair, eyes, skin, musty smell are also characteristic signs of PKU.
The combination of deficient Phe hydroxylase, early onset symptoms like MR, vomiting, athetosis, seizures, developmental delay, fair hair, eyes, skin, musty smell, and the requirement for a low Phe diet all point to E) Phenylketonuria (PKU) as the most likely diagnosis.
complete 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.
What is the most likely diagnosis:
A) Maple syrup urine disease
B) Cystic fibrosis
C) Galactosemia
D) Tay-Sachs disease
E) Phenylketonuria (PKU)