title: Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life.
abstract: 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 3months, the opposite changes were observed: total cholesterol, 16/28%; HDL-cholesterol, 13/23%; LDL-cholesterol, 16/33%. At 12months, 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.
  
  
  CONCLUSIONS
  Irrespective of phenylalanine concentrations, lipoprotein synthesis in PAH-deficient children, particularly in PKU children, was suppressed in early life.
authors.affiliation: Department of Pediatrics, Takarazuka City Hospital, Takarazuka, Japan; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan. Electronic address: nagasa-hirono@k2.dion.ne.jp.
authors.forename: Hironori
authors.initials: H
authors.lastname: Nagasaka
authors.affiliation: Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tsukahara
authors.affiliation: Department of Genetics, Faculty of Medicine, Hyogo Medical University, Nishinomiya, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Okano
authors.affiliation: Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Suita, Japan.
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Hirano
authors.affiliation: Faculty of Health Sciences, Hokkaido University, Sapporo, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Sakurai
authors.affiliation: Faculty of Health Sciences, Hokkaido University, Sapporo, Japan.
authors.forename: Shu-Ping
authors.initials: SP
authors.lastname: Hui
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Ohura
authors.affiliation: Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Usui
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
authors.forename: Tohru
authors.initials: T
authors.lastname: Yorifuji
authors.affiliation: Department of Clinical and Laboratory Medicine, Juntendo University, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Hirayama
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtake
authors.affiliation: Department of Clinical and Laboratory Medicine, Juntendo University, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Miida
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008074:Lipoproteins / Q000097:blood*; D008297:Male; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000172:deficiency*; D010661:Phenylketonurias / Q000097:blood* / Q000201:enzymology*; D013997:Time Factors
chemical_list: D008074:Lipoproteins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase
keywords: Cholesterol; High-density lipoprotein; Low-density lipoprotein; Phenylalanine hydroxylase; Phenylketonuria