I Need Help With My Case Study. See Attachment

Brief Answer:
Phenylketonuria disorder.

Detailed Answer:
Hello dear, welcome to Ask a doctor service.
I read your query and here is my advice.

I see the attachment you uploaded
1. The amino acid evolved is phenylalanine.
The defect in phenylalanine metabolism leads to phenylalanine accumulation in blood.
2. It accumulates because isn't normally converted in tyrosine. Normally phenylalanine is converted to tyrosine by an enzyme.
3. If it is untreated can lead to neurological problems that may include seizures, abnormally small head (microcephaly), hyperactivity, intellectual disability, delayed development, behavioral, emotional and social problems and psychiatric disorders.
4. The treatment is a PKU formula that contains enough proteins but low levels of phenylalanine.
As she grows up should keep a diet with low levels of phenylalanine.
Also frequent measurements of phenylalanine needed.

Hope I have answered the question.
Let me know if I can assist you further.

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Brief Answer:
No special treatment, pku formula only

Detailed Answer:
Hello dear and thank you for asking again.
This no special treatment for Penelope's presentation.
She only should use PKU formula with low levels of phenylalanine.
Let me know if I can assist you further.
Best regards.

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Brief Answer:
Milk formula without phenylalanine.

Detailed Answer:
Hello dear and thank you for asking again.
PKU formula is milk formula adopted for phenylketonuria suffering patients.
It contains less phenylalanine and more of other proteins which can be metabolised by the patient.
Let me know if I can assist you further.
Best regards.

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