Supervisors info:
Γεώργιος Λυρίτης, Ομότιμος Καθηγητής, Ιατρική,ΕΚΠΑ
Ισμήνη-Νίκη Δοντά, Καθηγήτρια, Ιατρική, ΕΚΠΑ
Ιωάννης Τριανταφυλλόπουλος, Επίκουρος Καθηγητής, Ιατρική, ΕΚΠΑ
Summary:
Aim: Τo investigate the relationship between different basic bone profile biochemical parameters in Galactosaemia and Phenylketonuria patients.
Methods: Study participants included:22 galactosaemia patients, males-females, with an average age 7,97±5,1 years and 100 phenylketonuria patients, males and females, with an average age 11,82±10,21 years, early diagnosed by Newborn Screening and dietary treated. Serum calcium, phosphate, magnesium, alkaline phosphatase, creatinine, albumin, triglycerides, cholesterol, HDL, LDL, vitamin D, hemoglobin and ferritin were determined for a routine biochemistry and total blood count. Z-BMI, Z-Wt and Z-Ht were estimated for the assessment of normal or delayed growth.
Results: In galactosaemia group: the mean values estimation of biochemical factors demonstrate no significant differences among the groups such males-females as well as all galactosaemia subtypes. Creatinine manifested values in the lower normal reference ranges whereas ALP was higher. Significant differences were observed to BMI patterns (Z-BMI, Z- Wt, Z-Ht) between the subtypes and between Vitamin D and age, body weight and height, in females. Vitamin D was negatively correlated to creatinine and HDL and calcium was negatively correlated to creatinine, in all patients.
In phenylketonuria group: no significant differences were observed to BMI, weight and height (Z-scores) in all subtypes of the disease (PKU-HPA), as well as in groups with good or poor compliance to diet. All the biochemical/hematological measurements were within normal ranges. Significant differences (p<0.05) were presented with respect to phenylalanine levels (Phe) between the patients with good and poor compliance and to triglycerides, phosphorus and alkaline phosphatase between the subtypes of the disease. Interestingly, significant statistical differences were observed, between different age groups, such as prepubertal <11years and pubertal>11 years, in the follow biochemical factors: calcium, phosphorus, cholesterol, creatinine, phenylalanine levels and vitamin D. A negative correlation was found between vitamin D, phosphorus and ALP with Phe levels and a positive correlation between creatinine and Phe levels, in all patients. Finally, only in PKU patients, calcium was negatively correlated and Z-BMI was positively correlated to Phe levels. Conclusion: These findings suggest that a systematic and periodic biochemical monitoring of basic bone profile may be useful in order to detect and evaluate subtle changes in bone metabolism in Galactosaemic and Phenylketonuric patients.
Keywords:
Phenylketonuria, Galactosaemia, Skeletal health, Basic bone profile, Vitamin D
