Body composition in young patients with galactose metabolic disorders: a preliminary report.

AIM: Body composition evaluation in patients with galactosemia and its variants. METHODS: The body composition of young subjects with galactose metabolic disorders was analyzed with dual X-ray absorptiometry. The subjects were divided into the classic galactosemia (CG; n=14) group and the group with other galactose metabolic disorders (OGMD, e.g., epimerase deficiency; n=8). RESULTS: In both groups, bone strength and bone mineral density Z-scores were normal. However, CG patients appeared sarcopenic (median muscle mass Z-score=-1.93), whereas OGMD subjects had low-normal muscle mass. In addition, approximately half of all patients were overweight. In CG patients, bone mass was strongly correlated to muscle mass (r=0.81), whereas in OGMD patients it was positively correlated to body mass index (r=0.78). CONCLUSIONS: An imbalance between muscle and fat mass, especially in patients with classic galactosemia, was observed. Given the observed strong correlation between bone and muscle mass, more effective lifestyle counseling is needed.

Glutamine, ornithine, citrulline and arginine levels in children with phenylketonuria: The diet effect.

BACKGROUND: Phenylketonuria (PKU) therapeutic diet is characterized by the great replacement of natural protein with a phenylalanine-free formula. AIM: To investigate the effect of diet on the amino acid serum levels in PKU patients and their total antioxidant status (TAS). METHODS: Thirty-seven poorly controlled patients (group A), 43 patients who strictly adhered to their diet (group B) and 50 controls were included in the study. In patients and controls blood chemistry, TAS and serum amino acid level determinations were performed. RESULTS: Phenylalanine levels significantly differed among the groups. Glutamine and ornithine levels were significantly higher in group A, while TAS (416±30 vs 228±23µmol/L, p<0.001), citrulline (39±15 vs 26±5µmol/L, p<0.001) and arginine levels (61±11 vs 80±12µmol/L, p<0.001) were higher in group B. The other determined amino acid serum levels did not differ among the groups of patients and controls. CONCLUSIONS: The high glutamine and ornithine levels in group A may reflect the high natural protein intake. High phenylalanine levels in these patients may locally affect the hepatocyte, enterocyte, and/or renal function resulting in low citrulline and arginine levels contributing to their low TAS.

The effect of diet on Paraoxonase 1/Arylesterase activities in patients with disorders of galactose metabolism.

OBJECTIVE: To investigate the effects of diet on the antiatherogenic enzyme Paraoxonase 1/Arylesterase (PON1/Aryl) activities in patients with disorders of galactose metabolism. PATIENTS AND METHODS: Eleven poorly dietary controlled children with classical galactosaemia (GALT deficiency), 7 with epimerase deficiency and 12 with duarte 1 variant 'off diet' underwent clinical and laboratory investigations before and after 10 days on galactose restricted diet whereas controls (N = 20) were examined once. Serum lipids, lipoproteins and apolipoprotein A1 (ApoA1) were measured with routine methods, PON1/Aryl activities and total antioxidant status (TAS) spectrophotometrically, and galactose-1-phosphate (Gal-1-P) enzymatically. RESULTS: Lipids, lipoproteins, ApoA1, PON1/Aryl, TAS remained unaltered in all groups, except in those with classical galactosaemia pre- versus postdiet. In patients with classical galactosaemia, TAS, PON1, Aryl (0.98 +/- 0.2 mmol/l, 60 +/- 12 U/min/ml, 56 +/- 16 KU/min/ml, respectively) were significantly reduced prediet as compared with those postdiet (1.63 +/- 0.2 mmol/l, 136 +/- 15 U/min/ml, 112 +/- 18 KU/min/ml, respectively; P < 0.001) and controls. The enzyme activities positively correlated with TAS (r = 0.56, P < 0.001) in all groups and negatively with Gal-1-P (r = -0.54, P < 0.001) in group with GALT deficiency. CONCLUSIONS: Low TAS and high Gal-1-P levels may reduce PON1/Aryl activities. Patients with classical galactosaemia, when on strict diet, may benefit with a generous antiatherogenic capacity.