Skip to main content

Table 2 Reported definitions of PAH deficiency phenotype based on pre-treatment Phe levelsa

From: Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

Reported Phe ranges N of respondents/total N of responded dietitians
How do you define “Mild HPA” based on blood Phe levels in the newborn before treatment?
  < =360 μmol/L (<=6 mg/dL) 1/9
  < 360 μmol/L (< 6 mg/dL) 3/9
 120–360 μmol/L (2–6 mg/dL) 2/9
 200–360 μmol/L (3.33–6 mg/dL) 1/9
 360–600 μmol/L(6–10 mg/dL) 1/9
  < 600 μmol/L (< 10 mg/dL) 1/9
How do you define “Mild PKU” based on blood Phe levels in the newborn before treatment?
 120–360 μmol/L (2–6 mg/dL) 1/9
 360–600 μmol/L (6–10 mg/dL) 3/9
  < 600 μmol/L (< 10 mg/dL) 1/9
 600–900 μmol/L (10–15 mg/dL) 2/9
 360–1200 μmol/L (6–20 mg/dL) 2/9
How do you define “Moderate PKU” based on blood Phe levels in the newborn before treatment?
  > 360 μmol/L (> 6 mg/dL) 1/8
 600–1000 μmol/L (10–16.67 mg/dL) 1/8
 600–1200 μmol/L (10–20 mg/dL) 3/8
 900–1200 μmol/L (15–20 mg/dL) 2/8
 1200–1800 μmol/L (20–30 mg/dL) 1/8
How do you define “Classical PKU” based on blood Phe levels in the newborn before treatment?b
  > 600 μmol/L (> 10 mg/dL) 1/12
  ≥ 1000 μmol/L (> 16.67 mg/dL) 1/12
  > 1200 μmol/L (> 20 mg/dL) 7/12
  > 1200–1500 μmol/L (20–25 mg/dL) 1/12
 1200–2400 μmol/L (20–40 mg/dL) 1/12
  > 1800 μmol/L (> 30 mg/dL) 1/12
  1. aFour respondents indicated that they do not use PKU classification based on pre-treatment Phe levels;
  2. bTwo respondents utilize pre-treatment Phe as follows: PKU is diagnosed when pre-treatment Phe is ≥1200 μmol/L
  3. (classical PKU, included in “classical PKU”) and HPA < 1200 μmol/L (not included in the table)