Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.
In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment.



Sixty early diagnosed Dutch patients (aged 1-39 years) were included in a multi-center cross-sectional study. Their dietary intake, blood concentrations of micronutrients, FA, fracture history and BMD were assessed.



Selenium dietary intake and serum concentrations were low in 14 and 46% of patients, respectively. The serum 25-OH vitamin D2 + D3 concentration was low in 14% of patients while 20% of patients had a low vitamin D intake. Zinc serum concentrations were below normal in 14% of patients, despite adequate intake. Folic acid serum concentrations and intake were elevated. Despite safe total protein and fat intake, arginine plasma concentrations and erythrocyte eicosapentaenoic acid were below reference values in 19 and 6% of patients, respectively. Low BMD (Z-score <-2) was slightly more prevalent in patients, but the lifetime fracture prevalence was comparable to the general population.



Dutch patients with PKU on long-term dietary treatment have a near normal nutrient status. Supplementation of micronutrients of which deficiency may be deleterious (e.g., vitamin D and selenium) should be considered. BMD warrants further investigation.
Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
Serwet
S
Demirdas
Francjan J
FJ
van Spronsen
Carla E M
CEM
Hollak
J Hanneke
JH
van der Lee
Peter H
PH
Bisschop
Fred M
FM
Vaz
Nienke M
NM
Ter Horst
M Estela
ME
Rubio-Gozalbo
Annet M
AM
Bosch
D000293:Adolescent; D000328:Adult; D015519:Bone Density / Q000187:drug effects; D001842:Bone and Bones / Q000187:drug effects* / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004044:Dietary Proteins / Q000008:administration & dosage / Q000097:blood; D004912:Erythrocytes / Q000737:chemistry; D005228:Fatty Acids, Essential / Q000008:administration & dosage* / Q000097:blood; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018977:Micronutrients / Q000008:administration & dosage / Q000097:blood*; D015596:Nutrition Assessment; D009752:Nutritional Status; D010649:Phenylalanine / Q000008:administration & dosage / Q000097:blood; D010661:Phenylketonurias / Q000097:blood* / Q000188:drug therapy*; D012643:Selenium / Q000008:administration & dosage / Q000097:blood; D014807:Vitamin D / Q000008:administration & dosage / Q000097:blood; D055815:Young Adult
D004044:Dietary Proteins; D005228:Fatty Acids, Essential; D018977:Micronutrients; D014807:Vitamin D; D010649:Phenylalanine; D012643:Selenium
Bone mineral density; Essential fatty acids ; Micronutrients; Osteopenia; Osteoporosis; Phenylalanine; Phenylketonuria