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Astrocyte Dysfunction in Developmental Neurometabolic Diseases.

Olivera-Bravo, Silvia; Isasi, Eugenia; Fernández, Anabel; Casanova, Gabriela; Rosillo, Juan Carlos; Barbeito, Luigi.

Adv Exp Med Biol ; 949: 227-243, 2016.

Article En | MEDLINE | ID: mdl-27714692

Astrocytes play crucial roles in maintaining brain homeostasis and in orchestrating neural development, all through tightly coordinated steps that cooperate to maintain the balance needed for normal development. Here, we review the alterations in astrocyte functions that contribute to a variety of developmental neurometabolic disorders and provide additional data on the predominant role of astrocyte dysfunction in the neurometabolic neurodegenerative disease glutaric acidemia type I. Finally, we describe some of the therapeutical approaches directed to neurometabolic diseases and discuss if astrocytes can be possible therapeutic targets for treating these disorders.

Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/therapy , Astrocytes/pathology , Brain Diseases, Metabolic/diagnosis , Brain Diseases, Metabolic/therapy , Brain/pathology , Glutaryl-CoA Dehydrogenase/deficiency , Alexander Disease/diagnosis , Alexander Disease/metabolism , Alexander Disease/pathology , Alexander Disease/therapy , Amino Acid Metabolism, Inborn Errors/metabolism , Amino Acid Metabolism, Inborn Errors/pathology , Antioxidants/therapeutic use , Astrocytes/drug effects , Astrocytes/metabolism , Brain/drug effects , Brain/metabolism , Brain Diseases, Metabolic/metabolism , Brain Diseases, Metabolic/pathology , Ceruloplasmin/deficiency , Ceruloplasmin/metabolism , Diet/methods , Disease Management , Glucose/therapeutic use , Glutamate-Ammonia Ligase/deficiency , Glutamate-Ammonia Ligase/metabolism , Glutaryl-CoA Dehydrogenase/metabolism , Hepatic Encephalopathy/diagnosis , Hepatic Encephalopathy/metabolism , Hepatic Encephalopathy/pathology , Hepatic Encephalopathy/therapy , Homeostasis , Humans , Iron Metabolism Disorders/diagnosis , Iron Metabolism Disorders/metabolism , Iron Metabolism Disorders/pathology , Iron Metabolism Disorders/therapy , Neurodegenerative Diseases/diagnosis , Neurodegenerative Diseases/metabolism , Neurodegenerative Diseases/pathology , Neurodegenerative Diseases/therapy , Neurogenesis/drug effects , Niemann-Pick Disease, Type C/diagnosis , Niemann-Pick Disease, Type C/metabolism , Niemann-Pick Disease, Type C/pathology , Niemann-Pick Disease, Type C/therapy , Pyruvate Carboxylase Deficiency Disease/diagnosis , Pyruvate Carboxylase Deficiency Disease/metabolism , Pyruvate Carboxylase Deficiency Disease/pathology , Pyruvate Carboxylase Deficiency Disease/therapy , Sorption Detoxification

[Pyruvate carboxylase deficiency].

Naito, Etsuo.

Nihon Rinsho ; 60 Suppl 4: 755-8, 2002 Apr.

Article Ja | MEDLINE | ID: mdl-12013992

Pyruvate Carboxylase Deficiency Disease , Acidosis, Lactic/etiology , Child, Preschool , Citrullinemia/etiology , Diagnosis, Differential , Humans , Hyperammonemia/etiology , Infant , Infant, Newborn , Mutation , Prognosis , Pyruvate Carboxylase/genetics , Pyruvate Carboxylase Deficiency Disease/diagnosis , Pyruvate Carboxylase Deficiency Disease/etiology , Pyruvate Carboxylase Deficiency Disease/therapy

Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.

Arnold, G L; Griebel, M L; Porterfield, M; Brewster, M.

Clin Pediatr (Phila) ; 40(9): 519-21, 2001 Sep.

Article En | MEDLINE | ID: mdl-11583052

Pyruvate Carboxylase Deficiency Disease/complications , Acidosis/etiology , Child, Preschool , Humans , Male , Paresis/etiology , Phenotype , Pyruvate Carboxylase Deficiency Disease/genetics , Pyruvate Carboxylase Deficiency Disease/therapy