L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH. About 200 patients with elevated concentrations of 2-hydroxyglutarate (2HG) in the urine were referred for chiral determination of 2HG and L2HGDH mutational analysis. All patients with increased L2HG (n 5 106; 83 families) were included. Clinical information on 61 patients was obtained via questionnaires. In 82 families the mutations were detected by direct sequence analysis and/or multiplex ligation dependent probe amplification (MLPA), including one case where MLPA was essential to detect the second allele. In another case RT-PCR followed by deep intronic sequencing was needed to detect the mutation. Thirty-five novel mutations as well as 35 reported mutations and 14 nondiseaserelated variants are reviewed and included in a novel Leiden Open source Variation Database (LOVD) for L2HGDH variants (http://www.LOVD.nl/L2HGDH). Every user can access the database and submit variants/ patients. Furthermore, we report on the phenotype, including neurological manifestations and urinary levels of L2HG, and we evaluate the phenotype-genotype relationship.

ADMA levels in patients with acute onset AF were significantly increased when compared with patients with chronic AF and the healthy control group indicating the presence of endothelial dysfunction and a prothrombotic state even in a very early phase of AF.

Malnutrition in children with cancer is reported to be relatively uncommon at the time of diagnosis. However, in most studies nutritional status measurement has relied almost exclusively on weight-related indices. This can be misleading, because in children with malignancy, tumor masses can reach more than 10% of total body weight. A controlled study was performed in 62 patients using arm anthropometry to provide a more accurate evaluation of the nutritional status of children with cancer at presentation. Height, weight, midupper arm circumference (MUAC), and triceps skinfold thickness (TSFT) were measured in all patients (40 boys, 22 girls) and controls (18 boys, 13 girls). Weight for height (WFH) of each patient was compared with the national standards. MUAC and TSFT were also interpreted according to the standards developed by A. Roberto Frisancho. The mean ages were 6.5 +/- 3.7 years (range 0.08-13) and 5.7 +/- 4.7 years (range 0.25-15) in patients and control group, respectively. Results showed that although the WFH values for patients were normal, MUAC and TSFT values were significantly less than control values (P < 0.001). Moreover, 27% of patients showed malnutrition (they had MUAC and TSFT below 5th percentile). Patients with intraabdominal solid tumors had significantly lower MUAC and TSFT values than those with extraabdominal solid tumors (P < 0.05). The data strongly indicate that malnutrition is common at the time of diagnosis in children with cancer, and arm anthropometry should replace the use of weight-related indices to identify malnutrition in children.

Dual energy X-ray absorptiometry (DXA) was used to assess lumbar spine (L2-4) and femoral neck bone mineral density (BMD) in 36 children taking either carbamazepine or valproic acid for longer than one year, for generalized idiopathic epilepsy. Patients were matched with controls. Biochemical parameters of bone mineral metabolism were also measured. BMD values at both the femur neck and lumbar spine in both the carbamazepine and valproic acid groups were not significantly different from that of the control group. Serum levels of calcium were subnormal and alkaline phosphatase levels were high in the carbamazepine group. Urinary calcium levels were significantly lower in both groups than in the control group (p< or =0.05) and also significantly lower in the valproic acid group than in the carbamazepine group (p< or = 0.05). There were no other significant biochemical changes in either group. In conclusion, the results suggest that valproic acid and carbamazepine monotherapies have minimal effects on bone mineral metabolism, but routine monitoring of risk and consideration of prophylactic vitamin D supplementation is important.

Our data demonstrate that ADMA and ox-LDL levels in adolescent PCOS subjects were not different than those in controls. Abnormal lipid profile was shown in obese and nonobese girls with PCOS and leptin was related with these lipid abnormalities in the PCOS subjects.