Phenylketonuria in Greece: 12 year's experience

Abstract

ABSTRACT. Screening of 1 042 000 Greek newborns for PKU using the Guthrie test, revealed a mean incidence 1: 10 420 for Hyperphenylalaninaemia (1:24 233 classic PKU and 1:18 280 benign variants). The mean Phe concentration of the first sample (3–15 days) was 14.1 mg/dl (6–40) for PKU while, for variants, it was 7.7 mg/dl (4.16). Using 4 mg/dl as the limit under which no repeat test was requested, no case of PKU has been missed. On the whole, 100 newborns with persistent Hphe have been detected: 43 proved to be classical PKU and 57 benign variants. After excluding BH4 deficiency, Phe blood level has been kept below 10 mg/dl in all Hphe babies during the first 2 years of life, irrespective of the type of Hphe. All treated Hphe babies have developed normally. Discrimination between PKU and variants was achieved in the 6–18 month of life with protein loading tests. Treated PKU children had the lowest Phe concentrations during the first year of life (mean 5.1 mg/dl). From then on, a steady yearly increase was observed. Their mean IQ in the Stanford‐Binet L‐M dropped from 107.2 in the second year to 95.8 in the sixth year. A high negative correlation is not clearly shown, probably due to the small number of eases, PKU clinic (supportive and counselling group therapy) along with individual consultations have proved to be helpful, as has the promotion of diet compliance. The need to individualize each of Hphe before deciding upon ways of treatment is stressed and a protocol to be followed for each Hphe is proposed.

Bone mineral status in children with phenylketonuria under treatment

“…a field of intensive research for many years. The present data showed, as previously reported from our group (12), that physical growth of PKU children and adolescents is normal. However, there have been few reports on the longterm effects of this disorder or dietary treatment on bones and other systems.…”

“…Forty-eight children with classic PKU (20 M, 28 F), aged 2.5-17 y (mean 8.8 Ϯ 3.7), were recruited for participation in the study. All patients were identified from the Greek Neonatal Screening Program (11) and had been under surveillance since infancy at the Institute of Child Health in Athens (12). The adequacy of their nutrition was estimated from their actual intake.…”

“…This was derived from the 2-3 d dietary record they sent with their Guthrie card every month and a more detailed record taken by the dietitian during their annual visit to the clinic. All had appropriate intake of calories, artificial and natural protein, carbohydrate, fat, calcium and magnesium for their weight, height and age (12,13). The compliance with dietary treatment for each subject was evaluated by calculating the average of serum Phe levels (12 measurements) during the previous 12 months, including the value on the day of study.…”

Ο Μεταβολισμός Των Οστών Στα Παιδιά Με Φαινυλκετονουρία

“…Η συχνότητα της PKU ποικίλει στις διάφορες χώρες από 1:3.000 (Ιρλανδία) έως 1:60.000 (Ιαπωνία) [Bickel 1981, McKusick 1992. Στην Ελλάδα υπολογίζεται ότι η μέση συχνότητα της είναι 1:13.750 (πίνακας 4) [Σούλπη 1987, Missiou-Tsagaraki 1988, McKusick 1992. [Antonarakis 1982, Woo 1989, Οkano et al 1991, McKusick 1992, Farriaux 1997].…”

“…πυκνότητας (BD, ±SD) με το βαθμό τήρησης της θεραπευτικής δίαιτας (Phe) στους ασθενείς με PKU Phe BD (SD) και του κλάσματος Artificial/Natural protein στους ασθενείς με PKU αποβολή ασβεστίου ορού (UCa/Ucr) μεταξύ των ασθενών με PKU και των φυσιολογικών παιδιώνΣυζήτησηΓια πολλά χρόνια, η νοητική και σωματική ανάπτυξη ασθεvών με PΚU αποτέλεσε το αντικείμενο αρκετών μελετώv. Tα αποτελέσματά μας σε προηγούμεvη δημοσίευση[Missiou-Tsagaraki et al 1988] έδειξαv ότι η σωματική αvάπτυξη τωv παιδιώv και εφήβωv με PΚU ήταν φυσιολογική. Ωστόσο λίγες ανακοιvώσεις υπάρχουν σχετικά με τις μακροπρόθεσμες επιπτώσεις αυτής της ασθέvειας ή και της διαιτητικής αγωγής στα οστά και άλλα συστήματα.…”