Subject(s)
Anticonvulsants/adverse effects , Rett Syndrome/chemically induced , Valproic Acid/adverse effects , Adolescent , Anticonvulsants/urine , Diagnosis, Differential , Electroencephalography , Epilepsy, Temporal Lobe/drug therapy , Female , Humans , Liver Function Tests , Rett Syndrome/diagnosis , Rett Syndrome/urine , Valproic Acid/urineABSTRACT
Rett syndrome is a neuro-developmental disorder related to autistic behavior. Persons with autism have previously been found to have hyperpeptiduria. We here report a significantly higher level of peptides in the first fasting morning urine from 53 girls with Rett syndrome (both classical and congenital) compared with 53 healthy girls. This elevation in urinary peptides was similar to that in 35 girls with infantile autism. As in persons with autism, the individual levels of urinary peptides in the Rett syndrome group varied, and about a fifth were within the normal range. Levels of peptides were lower in girls with classic Rett syndrome than in girls with congenital Rett syndrome. This may be due to different etiological causes or to active and stagnant phases of the disease. Urine from girls with Rett syndrome was found to have higher frequency and higher levels of some urinary peptides that may cause inhibition of brain maturation and epilepsy
Subject(s)
Creatinine/urine , Glycine/analogs & derivatives , Glycine/urine , Oligopeptides/urine , Rett Syndrome/urine , Substance P/urine , Adolescent , Adult , Child , Child, Preschool , Chromatography, High Pressure Liquid , Female , Humans , Middle Aged , Opioid PeptidesABSTRACT
The pterins, neopterin and biopterin, occur naturally in body fluids including urine. Increased neopterin levels are associated with activation of the cellular immune system and reduced biopterins are essential for biosynthesis of the monoamine neurotransmitters. The present study measured urinary neopterin and biopterin by high-performance liquid chromatography in 40 subjects with Rett syndrome, eight of their healthy sisters and 29 female control volunteers (age range 2-54 years). The results confirm earlier preliminary findings that urinary neopterin levels are raised in a proportion of young girls with Rett syndrome but not in the older women. In contrast urinary biopterin levels are not different from controls in the youngest children but remain low while control values increase with age. These findings may indicate immune activation during the regression phase of Rett syndrome but also raise the possibility that an inherited fault in tetrahydrobiopterin metabolism increases the risk of developing the disorder.
Subject(s)
Pterins/urine , Rett Syndrome/urine , Adolescent , Adult , Age Factors , Biopterins/urine , Case-Control Studies , Child , Child, Preschool , Chromatography, High Pressure Liquid , Female , Genetic Predisposition to Disease , Humans , Immunity, Cellular , Middle Aged , Neopterin/urine , Pterins/immunology , Rett Syndrome/genetics , Rett Syndrome/immunologyABSTRACT
The metabolites of dopamine (homovanillic acid-HVA), noradrenaline (4-hydroxy-3-methoxy-phenylglycol-HMPG), and serotonin (5-hydroxyindoleacetic acid-5-HIAA) were measured in cerebrospinal fluid (CSF) from 38 patients and urine from 36 patients with typical Rett syndrome (RS) and compared with controls of similar age. CSF metabolite concentrations were the same in the patients and controls. Urinary metabolites expressed per mol creatinine were significantly higher in older RS patients. This difference is partly explained by lower urinary creatinine levels in older RS patients, due to their known reduction in muscle mass. Alterations in CSF or urine biogenic amine metabolite concentrations do not appear to represent the primary abnormality in RS, and their measurement cannot be regarded as a reliable means of diagnosis.