What are the steps for the annual review of a patient with Phenylketonuria (PKU)?

From the Guidelines

The annual review for a patient with Phenylketonuria (PKU) should include comprehensive monitoring of metabolic control, nutritional status, and overall health, with a focus on maintaining blood phenylalanine levels between 120-360 μmol/L for adults and 120-240 μmol/L for children and pregnant women, as recommended by the most recent guidelines 1.

Steps for Annual Review

The following steps should be taken during the annual review:

• Measure blood phenylalanine levels to assess metabolic control
• Conduct a detailed dietary assessment to evaluate protein intake, caloric adequacy, and adherence to phenylalanine restriction
• Assess nutritional status through measurements of essential amino acids, vitamins (particularly B12, folate, vitamin D), minerals (iron, zinc, selenium), and fatty acids
• Record anthropometric measurements, including height, weight, BMI, and growth parameters for children
• Perform neurological and cognitive assessments to detect any subtle changes in function, particularly in executive functioning, attention, and processing speed
• Evaluate response to sapropterin (Kuvan) and adjust dosing as needed (typically 5-20 mg/kg/day) 1
• Monitor efficacy and side effects of pegvaliase (Palynziq) (starting at 2.5 mg/week, potentially increasing to 20-40 mg/day) 1
• Assess bone health through DEXA scans every 3-5 years due to the risk of osteopenia
• Screen for common comorbidities, including anxiety, depression, and metabolic syndrome
• Provide contraceptive counseling and preconception planning for women of childbearing age, as strict metabolic control is critical before and during pregnancy to prevent maternal PKU syndrome 1

History Taking

A detailed history should be taken to assess:

• Adherence to dietary restrictions and medical treatment
• Any changes in symptoms or medical condition
• Family planning and pregnancy status
• Any new medications or supplements being taken

Examination

A physical examination should be performed to:

• Assess overall health and nutritional status
• Monitor for any signs of metabolic dysfunction or other related conditions
• Evaluate cognitive and neurological function

Investigation

The following investigations should be requested:

• Blood phenylalanine levels
• Nutritional assessments (e.g. essential amino acids, vitamins, minerals)
• Anthropometric measurements (e.g. height, weight, BMI)
• Neurological and cognitive assessments
• DEXA scans (every 3-5 years)
• Screening for comorbidities (e.g. anxiety, depression, metabolic syndrome) By following these steps, healthcare providers can ensure that patients with PKU receive comprehensive care and management, reducing the risk of complications and improving overall health and quality of life 1.

From the Research

Annual Review of a Patient with Phenylketonuria (PKU)

The annual review of a patient with PKU involves several steps to ensure optimal management of the condition. The following are the key steps:

• History Taking:
  • Assess the patient's dietary compliance and any challenges they face with their current diet 2
  • Evaluate the patient's overall health and any co-morbidities they may have 3
  • Review the patient's medication regimen, including any supplements they are taking, such as vitamin B12 and B6 4
• Specific Questions:
  • Ask about any changes in the patient's diet or lifestyle that may impact their PKU management
  • Inquire about any symptoms or concerns the patient may have, such as neurological or cognitive issues
  • Discuss the patient's goals and expectations for their PKU management
• Examination:
  • Conduct a physical examination to assess the patient's overall health and any potential complications of PKU
  • Evaluate the patient's cognitive and neurological function 2
• Investigation to be Requested:
  • Blood tests to monitor the patient's phenylalanine levels and adjust their treatment as needed 5, 6
  • Regular monitoring of vitamin B12 and B6 levels to prevent deficiency 4
  • Other investigations as needed to assess the patient's overall health and manage any co-morbidities 3