Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life

Hironori Nagasaka, Hirokazu Tsukahara, Yoshiyuki Okano, Ken ichi Hirano, Toshihiro Sakurai, Shu Ping Hui, Toshihiro Ohura, Hiromi Usui, Tohru Yorifuji, Satoshi Hirayama, Akira Ohtake, Takashi Miida

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


Background: Influence of hyperphenylalaninemia on lipoproteins in early life remains unclear. Methods: We enrolled 24 phenylalanine hydroxylase (PAH)-deficient children who were classified into a phenylketonuria (PKU) group (n = 12) lacking PAH activity and a benign hyperphenylalaninemia (HPA) group (n = 12) having partial PAH activity, and their 11 non-affected siblings. We measured serum total-cholesterol, low-density lipoprotein (LDL)-cholesterol, and high-density lipoprotein (HDL)-cholesterol levels together with apolipoproteins for the first year of life, and compared them with those of 30 age-matched healthy controls. Results: The affected groups invariably had lower cholesterol levels than non-affected groups. At birth, HDL-cholesterol decrease was greatest and predominated over the LDL-cholesterol decrease: total cholesterol, 28/36% decrease to the control level in HPA/PKU; HDL-cholesterol, 33/51%; LDL-cholesterol, 20/28%. At 3. months, the opposite changes were observed: total cholesterol, 16/28%; HDL-cholesterol, 13/23%; LDL-cholesterol, 16/33%. At 12. months, LDL were still significantly lower in both groups (8/18%, p < .05 and .001), although HDL was significantly decreased only in the PKU group (15%, p < .05). Apolipoprotein A-I/A-II and B changed respectively in accordance with HDL-cholesterol and LDL-cholesterol changes. Despite similar phenylalanine levels, the PKU group invariably had lower cholesterol concentrations than the HPA group had. Conclusion: Irrespective of phenylalanine concentrations, lipoprotein synthesis in PAH-deficient children, particularly in PKU children, was suppressed in early life.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalClinica Chimica Acta
Publication statusPublished - Jun 10 2014


  • Cholesterol
  • High-density lipoprotein
  • Low-density lipoprotein
  • Phenylalanine hydroxylase
  • Phenylketonuria

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical


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