We describe brain lesions in a patient with a monocarboxylate transporter 8 mutation. Imaging showed a high T2 lesion in the left putamen at age 3 and a right putamen lesion at age 6. Cerebrospinal fluid free thyroxine concentrations were low, with normal 3,3',5-triiodothyronine concentrations.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2005.05.012DOI Listing

Publication Analysis

Top Keywords

monocarboxylate transporter
8
cerebrospinal fluid
8
novel mutation
4
mutation monocarboxylate
4
transporter gene
4
gene boy
4
boy putamen
4
putamen lesions
4
lesions low
4
low free
4

Similar Publications

Glioblastoma(GBM) is a highly malignant primary central nervous system tumor that poses a significant threat to patient survival due to its treatment resistance and rapid recurrence.Current treatment options, including maximal safe surgical resection, radiotherapy, and temozolomide (TMZ) chemotherapy, have limited efficacy.In recent years, the role of glycolytic metabolic reprogramming in GBM has garnered increasing attention.

View Article and Find Full Text PDF

MCT1 lactate transporter blockade re-invigorates anti-tumor immunity through metabolic rewiring of dendritic cells in melanoma.

Nat Commun

January 2025

Institute for Advanced Biosciences, Team: Epigenetics, Immunity, Metabolism, Cell Signaling & Cancer, Inserm U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France.

Dendritic cells (DC) are key players in antitumor immune responses. Tumors exploit their plasticity to escape immune control; their aberrant surface carbohydrate patterns (e.g.

View Article and Find Full Text PDF

This study investigated the effects of bisphenol A (BPA) and the involvement of nuclear estrogen receptors (ESR) on testicular energy metabolism and spermatogenesis in zebrafish. Testes were incubated with DMSO, 10 pM or 10μM BPA for 6 or 72h, with some samples pre-incubated with the ESRα/β antagonist ICI 182,780. Gene and protein expressions were analyzed using real-time PCR and Western blot, respectively.

View Article and Find Full Text PDF

The impact of solute carrier proteins on disrupting substance regulation in metabolic disorders: insights and clinical applications.

Front Pharmacol

January 2025

Center for Medical Research and Innovation in Digestive System Tumors, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Carbohydrates, lipids, bile acids, various inorganic salt ions and organic acids are the main nutrients or indispensable components of the human body. Dysregulation in the processes of absorption, transport, metabolism, and excretion of these metabolites can lead to the onset of severe metabolic disorders, such as type 2 diabetes, non-alcoholic fatty liver disease, gout and hyperbilirubinemia. As the second largest membrane receptor supergroup, several major families in the solute carrier (SLC) supergroup have been found to play key roles in the transport of substances such as carbohydrates, lipids, urate, bile acids, monocarboxylates and zinc ions.

View Article and Find Full Text PDF

Effects of endurance training under calorie restriction on energy substrate metabolism in mouse skeletal muscle and liver.

J Physiol Sci

January 2025

Department of Sports Sciences, Graduate School of Arts and Sciences, The University of Tokyo, 3-8-1, Komaba, Meguro-ku, 153-8902, Tokyo, Japan.

We investigated whether calorie restriction (CR) enhances metabolic adaptations to endurance training (ET). Ten-week-old male Institute of Cancer Research (ICR) mice were fed ad libitum or subjected to 30% CR. The mice were subdivided into sedentary and ET groups.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!