A pilot prospective follow-up study of the role of the ketogenic diet was carried out on 30 children, aged between 4 and 10 years, with autistic behavior. The diet was applied for 6 months, with continuous administration for 4 weeks, interrupted by 2-week diet-free intervals. Seven patients could not tolerate the diet, whereas five other patients adhered to the diet for 1 to 2 months and then discontinued it. Of the remaining group who adhered to the diet, 18 of 30 children (60%), improvement was recorded in several parameters and in accordance with the Childhood Autism Rating Scale. Significant improvement (> 12 units of the Childhood Autism Rating Scale) was recorded in two patients (pre-Scale: 35.00 +/- 1.41[mean +/- SD]), average improvement (> 8-12 units) in eight patients (pre-Scale: 41.88 +/- 3.14[mean +/- SD]), and minor improvement (2-8 units) in eight patients (pre-Scale: 45.25 +/- 2.76 [mean +/- SD]). Although these data are very preliminary, there is some evidence that the ketogenic diet may be used in autistic behavior as an additional or alternative therapy.

Background:There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).Objectives:We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism.Patients and Methods:The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening. Bone, muscle, and fat mass of 48 patients with phenylketonuria (PKU) and 32 patients with mild mHPA, aged five to 18 years, were compared to 57 age- and sex-matched controls. Dual energy X-ray absorptiometry was used for this purpose.Results:Compared to controls, bone mineral density (BMD) was lower in patients with PKU (mean total body BMD z score, 0.11; P = 0.03) and in those with mild mHPA (mean lumbar BMD z score, -0.34; P = 0.01). Lean body mass and fat mass were not significantly affected in the study group. Comparison between the two patients groups did not reveal any difference in body composition profiles; however, pubertal status appeared important for within-group comparisons. Fat mass was significantly increased in teenagers with PKU, which was more evident in those with poor dietary compliance irrespective of gender (fat mass z score, 0.66; P = 0.018). Finally, positive correlations were found not only between bone, muscle, and fat mass in both groups, but also between fat mass and Phenylalanine levels in patients with PKU (r, 0.46; P = 0.001).Conclusions:Bone mineral density appears suboptimal in young patients with disorders of phenylalanine metabolism. Adolescents seemed more prone to obesity, especially when their dietary adherence was poor, whereas muscle mass was not considerably affected. To ensure healthier bones and less fat content, close follow-up as well as proper lifestyle advice is needed.

A pilot prospective follow-up study of the role of the branched chain amino acids as additional therapy to the ketogenic diet was carried out in 17 children, aged between 2 and 7 years, with refractory epilepsy. All of these patients were on the ketogenic diet; none of them was seizure free, while only 13 had more or less benefited from the diet. The addition of branched chain amino acids induced a 100% seizure reduction in 3 patients, while a 50% to 90% reduction was noticed in 5. Moreover, in all of the patients, no reduction in ketosis was recorded despite the change in the fat-to-protein ratio from 4:1 to 2.5:1. Although our data are preliminary, we suggest that branched chain amino acids may increase the effectiveness of the ketogenic diet and the diet could be more easily tolerated by the patients because of the change in the ratio of fat to protein.

Bone mineral status was assessed in 48 children with phenylketonuria (PKU) (20 M, 28 F, aged 2.5‐17 y). Bone density was measured in the distal third of the right forearm using single photon absorptiometry and was expressed as ±SD with respect to age‐ and gender‐matched controls. Serum calcium (Ca), magnesium (Mg), phosphorus (P), alkaline phosphatase (ALP), parathyroid hormone and 25‐hydroxyvitamin D were measured in morning samples. The ratios of urinary Ca/creatinine (UCa/ UCr), UP/UCr, UMg/UCr and hydroxyproline (OH‐Pr)/UCr were calculated in urine samples collected over a period of 3h. Patients' data were compared with those of 50 controls (22M, 28F, aged 3‐15y). The data showed severe osteopenia (below ‐2 SD) in 22/48 patients. Bone loss was more prominent in patients over 8y old. Bone density correlated significantly with age (r=– 0:56, p < 0.001) and with Phe (r=– 0:49, p < 0.007) but did not correlate with the other biochemical indices studied. Comparing PKU children with controls, significantly higher serum calcium and magnesium (p= 0:04, p< 0.001, respectively), lower ALP (p= 0:01), higher UCa/UCr ratio (p < 0.001), lower UP/UCr (p < 0.001) and lower UOH‐Pr/UCr (p < 0.001) were found. Dietary compliance was poor in patients over the age of 8y, as only 3/22 of ≤ 8y had mean serum phenylalanine >10mgdl−1, in contrast to 21/26 in the older group. It is clear from the data that osteopenia is commonly found in PKU patients from early life. The biochemical data indicate a metabolic state of low bone turnover in PKU patients. In conclusion, a better, more restricted diet may correct osteopenia.