scholarly journals Microcephaly in Neurometabolic Diseases

Children ◽  
2022 ◽  
Vol 9 (1) ◽  
pp. 97
Author(s):  
Wiktoria Kempińska ◽  
Karolina Korta ◽  
Magdalena Marchaj ◽  
Justyna Paprocka
Keyword(s):  
Metabolic Pathways ◽  
Developing Brain ◽  
Biochemical Reaction ◽  
Reaction Intermediates ◽  
Progressive Deterioration ◽  
Important Group ◽  
Neurometabolic Disorders ◽  
Neonates And Infants ◽  
The Brain

Neurometabolic disorders are an important group of diseases that mostly occur in neonates and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors necessary for a specific biochemical reaction, which leads to a deficiency of essential metabolites in the brain. This, in turn, can cause certain neurometabolic diseases. Disruption of metabolic pathways, and the inhibition at earlier stages, may lead to the storage of reaction intermediates, which are often toxic to the developing brain. Symptoms are caused by the progressive deterioration of mental, motor, and perceptual functions. The authors review the diseases with microcephaly, which may be one of the most visible signs of neurometabolic disorders.

Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features

2019 ◽  
Vol 15 (3) ◽  
pp. 255-268
Author(s):  
Direnç Özlem Aksoy ◽  
Alpay Alkan
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Metabolic Pathways ◽  
Wide Spectrum ◽  
Demyelinating Diseases ◽  
Resonance Spectroscopy ◽  
Resonance Imaging ◽  
Neurometabolic Disorders ◽  
Brain Involvement ◽  
The Brain

Background: Neurometabolic diseases are a group of diseases secondary to disorders in different metabolic pathways, which lead to white and/or gray matter of the brain involvement. </P><P> Discussion: Neurometabolic disorders are divided in two groups as dysmyelinating and demyelinating diseases. Because of wide spectrum of these disorders, there are many different classifications of neurometabolic diseases. We used the classification according to brain involvement areas. In radiological evaluation, MRI provides useful information for these disseases. Conclusion: Magnetic Resonance Spectroscopy (MRS) provides additional metabolic information for diagnosis and follow ups in childhood with neurometabolic diseases.

scholarly journals SHR/NCrl rats as a model of ADHD can be discriminated from controls based on their brain, blood, or urine metabolomes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Camille Dupuy ◽  
Pierre Castelnau ◽  
Sylvie Mavel ◽  
Antoine Lefevre ◽  
Lydie Nadal-Desbarats ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Attention Deficit Hyperactivity Disorder ◽  
Animal Model ◽  
Metabolic Pathways ◽  
Neurodevelopmental Disorder ◽  
Hyperactivity Disorder ◽  
Pathophysiological Condition ◽  
The Brain ◽  
And Oxidative Stress ◽  
Peripheral Samples

AbstractAttention-Deficit Hyperactivity Disorder (ADHD) is one of the most common neurodevelopmental disorder characterized by inattention, impulsivity, and hyperactivity. The neurobiological mechanisms underlying ADHD are still poorly understood, and its diagnosis remains difficult due to its heterogeneity. Metabolomics is a recent strategy for the holistic exploration of metabolism and is well suited for investigating the pathophysiology of diseases and finding molecular biomarkers. A few clinical metabolomic studies have been performed on peripheral samples from ADHD patients but are limited by their access to the brain. Here, we investigated the brain, blood, and urine metabolomes of SHR/NCrl vs WKY/NHsd rats to better understand the neurobiology and to find potential peripheral biomarkers underlying the ADHD-like phenotype of this animal model. We showed that SHR/NCrl rats can be differentiated from controls based on their brain, blood, and urine metabolomes. In the brain, SHR/NCrl rats displayed modifications in metabolic pathways related to energy metabolism and oxidative stress further supporting their importance in the pathophysiology of ADHD bringing news arguments in favor of the Neuroenergetic theory of ADHD. Besides, the peripheral metabolome of SHR/NCrl rats also shared more than half of these differences further supporting the importance of looking at multiple matrices to characterize a pathophysiological condition of an individual. This also stresses out the importance of investigating the peripheral energy and oxidative stress metabolic pathways in the search of biomarkers of ADHD.

scholarly journals Retrotransposon-induced mosaicism in the neural genome

Open Biology ◽  
2018 ◽  
Vol 8 (7) ◽  
pp. 180074 ◽  
Author(s):  
Gabriela O. Bodea ◽  
Eleanor G. Z. McKelvey ◽  
Geoffrey J. Faulkner
Keyword(s):  
Brain Development ◽  
Adult Neurogenesis ◽  
Neurological Disease ◽  
Dynamic Structure ◽  
Neurological Function ◽  
Developing Brain ◽  
Neural Cells ◽  
The Past ◽  
Retrotransposon Activity ◽  
The Brain

Over the past decade, major discoveries in retrotransposon biology have depicted the neural genome as a dynamic structure during life. In particular, the retrotransposon LINE-1 (L1) has been shown to be transcribed and mobilized in the brain. Retrotransposition in the developing brain, as well as during adult neurogenesis, provides a milieu in which neural diversity can arise. Dysregulation of retrotransposon activity may also contribute to neurological disease. Here, we review recent reports of retrotransposon activity in the brain, and discuss the temporal nature of retrotransposition and its regulation in neural cells in response to stimuli. We also put forward hypotheses regarding the significance of retrotransposons for brain development and neurological function, and consider the potential implications of this phenomenon for neuropsychiatric and neurodegenerative conditions.

scholarly journals Entry of antiepileptic drugs (valproate and lamotrigine) into the developing rat brain

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 384
Author(s):  
Samuel J. Toll ◽  
Fiona Qiu ◽  
Yifan Huang ◽  
Mark D. Habgood ◽  
Katarzyna M. Dziegielewska ◽  
...  
Keyword(s):  
Antiepileptic Drug ◽  
Placental Transfer ◽  
Rat Plasma ◽  
Developing Brain ◽  
Adult Brain ◽  
Cellular Mechanisms ◽  
Antiepileptic Drug Treatment ◽  
Dose Dependent ◽  
The Brain ◽  
Drug Entry

Background: Women with epilepsy face difficult choices whether to continue antiepileptic drug treatment during pregnancy, as uncontrolled seizures carry great risk to mother and fetus but continuing treatment may have adverse effects on baby’s development. This study aimed at evaluating antiepileptic drug entry into developing brain. Methods: Anaesthetised pregnant, non-pregnant adult females, postnatal and fetal rats were injected intraperitoneally with different doses, single or in combinations, of valproate and lamotrigine, all within clinical range. Injectate included 3H-labelled drug. After 30min, CSF, blood and brain samples were obtained; radioactivity was measured using liquid scintillation counting. Some animals were also exposed to valproate in feed throughout pregnancy and into neonatal period. Drug levels were measured by liquid chromatography coupled to mass spectrometry (LC-MS). Results are given as CSF or tissue/plasma% as index of drug entry. Results: Entry of valproate into brain and CSF was higher at E19 and P4 compared to adult but was not dose-dependent;  placental transfer increased significantly at highest dose of 100mg/Kg. Lamotrigine entry into the brain was dose dependent only at E19. Chronic valproate treatment, or combination of valproate and lamotrigine had little effect on either drug entry, except for reduced valproate brain entry in adult brain with chronic treatment. Placental transfer decreased significantly after chronic valproate treatment. LC-MS measurement of valproate in adults confirmed that rat plasma values were within the clinical range and CSF/plasma and brain/plasma ratios for LC-MS and 3H-valproate were similar. Conclusion: Results suggest that entry of valproate may be higher in developing brain, the capacity of barrier mechanism is mostly unaffected by doses within the clinical range, with or without addition of lamotrigine. Chronic valproate exposure may result in upregulation in cellular mechanisms restricting its entry into the brain. Entry of lamotrigine was little different at different ages and was not dose dependent.

CT and MRI of the Brain in Inherited Neurometabolic Disorders

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S112-S131 ◽  
Author(s):  
Jan Brismar
Keyword(s):  
World Literature ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Neurometabolic Disorder ◽  
Neurometabolic Disorders ◽  
Number Of Patients ◽  
Pediatric Neurologist ◽  
The Brain ◽  
Very High ◽  
Ct And Mri

The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling. (J Child Neurol 1992;7(Suppl):S112-S131.)

EXTRACORTICAL CEREBROSPINAL FLUID IN NORMAL HUMAN FETUSES

PEDIATRICS ◽  
1958 ◽  
Vol 21 (3) ◽  
pp. 403-408
Author(s):  
Jonathan T. Lanman ◽  
Yjrö Partanen ◽  
Sven Ullberg ◽  
John Lind
Keyword(s):  
Cerebrospinal Fluid ◽  
Developing Brain ◽  
Human Fetuses ◽  
Normal Human ◽  
The Brain

A layer of cerebrospinal fluid surrounds the developing brain of normal human fetuses. The layer was found to occupy 13 to 26% of the intracranial space. Convolutions appeared in the hemispheres while this layer was still present. Neither growth of the skull nor the appearance of cortical convolutions is secondary to pressure from growth of the brain into a confined cranial space.

Neuropsychiatry of neurometabolic, neuroendocrine, and mitochondrial disorders

2020 ◽  
pp. 309-322
Author(s):  
Mark Walterfang ◽  
Ramon Mocellin ◽  
Dennis Velakoulis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Psychiatric Illness ◽  
Mitochondrial Disorders ◽  
Endocrine Function ◽  
Endocrine Disorders ◽  
Endocrine Tumours ◽  
Neurometabolic Disorders ◽  
The Brain

This chapter examines the role of neurometabolic, neuroendocrine, and mitochondrial disorders in causing neuropsychiatric syndromes. It examines how disorders of cellular metabolic processes, particularly those that affect the brain, can result in major psychiatric syndromes and the over-representation of some neurometabolic disorders in psychiatric illness. It also discusses a range of endocrine disorders, particularly disorders of increased or reduced endocrine function and endocrine tumours, in producing psychiatric syndromes. The chapter also reviews the role of mitochondrial disorders in disrupting central nervous system processes and metabolism, and how some mitochondrial disorders result in psychiatric illness.

scholarly journals Early Perturbations in Glucose Utilization in Malaria-Infected Murine Erythrocytes, Liver and Brain Observed by Metabolomics

Metabolites ◽  
2020 ◽  
Vol 10 (7) ◽  
pp. 277
Author(s):  
Arjun Sengupta ◽  
Soumita Ghosh ◽  
Shobhona Sharma ◽  
Haripalsingh M. Sonawat
Keyword(s):  
Plasmodium Berghei ◽  
Metabolic Pathways ◽  
Malaria Parasite ◽  
Glucose Utilization ◽  
Early Infection ◽  
Flux Analysis ◽  
Plasmodium Berghei Anka ◽  
Central Carbon ◽  
The Brain ◽  
Pathway Level

Investigation of glucose utilization during an infection is central to the study of energy metabolism. The heavy utilization of glucose by the malaria parasite, and the consequences of this process, have been investigated extensively. However, host glucose utilization during early infection has not been explored to date. In a first attempt, this article investigates the changes in the host glucose utilization in Balb/c mice infected with Plasmodium berghei ANKA using 13C-labeled glucose infusion followed by NMR spectroscopy. The results suggested significant alterations of liver, brain and red blood cell (RBC) glucose utilization during early infection when the parasitemia was <1%. At the pathway level, we observed a decrease in the shunt metabolite 2,3-bisphosphoglycerate in the RBCs. Glycolysis and pathways associated with it, along with fatty acid unsaturation, were altered in the liver. Significant changes were observed in the central carbon metabolic pathways in the brain. These results have implications in understanding the host physiology during early infection and pave the way for detailed flux analysis of the proposed perturbed pathways.

scholarly journals Microbial Reduction of Cholesterol to Coprostanol: An Old Concept and New Insights

Catalysts ◽  
2019 ◽  
Vol 9 (2) ◽  
pp. 167 ◽  
Author(s):  
Aicha Kriaa ◽  
Mélanie Bourgin ◽  
Héla Mkaouar ◽  
Amin Jablaoui ◽  
Nizar Akermi ◽  
...  
Keyword(s):  
Gut Microbiota ◽  
Physicochemical Properties ◽  
Metabolic Pathways ◽  
Cholesterol Metabolism ◽  
Microbial Reduction ◽  
Reaction Intermediates ◽  
Future Directions ◽  
Microbial Enzymes ◽  
Shed Light

The gut microbiota plays a key role in cholesterol metabolism, mainly through the reduction of cholesterol to coprostanol. The latter sterol exhibits distinct physicochemical properties linked to its limited absorption in the gut. Few bacteria were reported to reduce cholesterol into coprostanol. Three microbial pathways of coprostanol production were described based on the analysis of reaction intermediates. However, these metabolic pathways and their associated genes remain poorly studied. In this review, we shed light on the microbial metabolic pathways related to coprostanol synthesis. Moreover, we highlight current strategies and future directions to better characterize these microbial enzymes and pathways.

Sign in / Sign up

Export Citation Format

Share Document