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Table 4 Assessment of Biochemical Status for nutrients/metabolites

From: Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis

Routinely

Annuala, b, biannualb

Haemoglobin, mean corpuscular volume, and ferritina, b; micronutrients (vitamins and minerals including: calcium, zinc, and selenium (SEPP1)) or hormones (parathyroid hormone) if clinically indicateda

Vitamin D 25-OHb

Our recommendation: DHAc, EPAc, Cholesterol

Conditionalc,b

Annual or as indicatedb

Vitamin B12 (plasma methylmalonic acid, total homocysteine), erythrocyte folate, zinc, copper, essential fatty acids (linoleic acid and alpha-linolenic acid).

Every 5 years beginning with baseline at age 5b

Bone density (DXA scan)b

Bone mineral density (BMD)a during late adolescence; if abnormal, the measurement should be repeated after 1 year

  1. a [2], b [102] excluding maternal PKU
  2. 3Monitoring is indicated by poor adherence to prescribed therapy (diet, medical food, or pharmacotherapy), clinical symptoms of nutritional inadequacy are present (e.g. poor growth), or serious intercurrent illness