This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Matsuishi, T. Articles by Kato, H. Search for Related Content PubMed PubMed Citation Articles by Matsuishi, T. Articles by Kato, H. Social Bookmarking                         What's this?

Abnormal Carbohydrate Metabolism in Cerebrospinal Fluid in Rett Syndrome

Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume, Japan

Fujiko Urabe, MD

Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume, Japan

Alan K. Percy, MD

Section of Pediatric Neurology Department of Pediatrics, Baylor College of Medicine, Houston, TX

Hironori Komori, MD

Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume, Japan

Yushiro Yamashita, MD

Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume, Japan

Rebecca S. Schultz, MD

Section of Pediatric Neurology Department of Pediatrics, Baylor College of Medicine, Houston, TX

Yasuyo Ohtani, PhD

Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume, Japan

Norikazu Kuriya, PhD

Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume, Japan

Hirohisa Kato, MD

Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume, Japan

We analyzed lactate, pyruvate, and citric acid cycle intermediates in cerebrospinal fluid by high-performance liquid chromatography in Rett syndrome patients (n = 27; mean age, 5.7 ± 3.4 years) and age-matched female controls (n = 12; mean age, 7.0 ± 3.3 years). The lactate, pyruvate, -ketoglutarate, and malate were significantly elevated in Rett syndrome compared to the controls. The lactate/pyruvate ratio was not different. On the other hand, cerebrospinal fluid citrate, cisaconitate, succinate, fumarate, and oxaloacetate were not significantly different in Rett syndrome patients than in the controls. We also evaluated the correlation between these acids and clinical symptoms and signs, including clinical stage, seizures, medications (anticonvulsants or naltrexone), developmental quotient, self-abuse, and hyperventilation or apnea or both. The concentrations of all these acids did not differ significantly with clinical stage. Lactate elevation significantly correlated with apnea. Lactate and pyruvate elevation significantly correlated with hyperventilation or with both breathing abnormalities. Our observations in this sample of patients with Rett syndrome led us to speculate that patients with the Rett syndrome may have defective carbohydrate metabolism. Elevated mitochondrial reduced nicotinamide-adenine dinucleotide-linked substrates suggest that reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase may be deficient in the brain in Rett syndrome patients. (J Child Neurol 1994;9:26-30).

Journal of Child Neurology, Vol. 9, No. 1, 26-30 (1994)
DOI: 10.1177/088307389400900105


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?