Inherited neurotransmitter diseases are a subset of rare neurometabolic disorders
characterized by hereditary deficiencies in neurotransmitter metabolism or transport. Non …

Cells configure their metabolism in a synchronized and timely manner to meet their energy
demands throughout development and adulthood. Transitions of developmental stages are …

Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical
manifestations ranging from mild infantile hypotonia, movement disorders to early infantile …

Objective: The purpose of this study was to search for differential metabolites in urine
organic acids, and to characterize metabolic features that can be used to identify metabolites …

Background Genetic defects of monoamine neurotransmitters are rare neurological
diseases amenable to treatment with variable response. They are major causes of early …

Non ketotic hyperglycinemia (NKH) is an inborn error of glycine metabolism caused by
mutations in the genes encoding glycine cleavage system proteins. Classic NKH has a …

Objectives: Identify the etiology of nonketotic hyperglycinemia. Outline the appropriate
evaluation of a patient with nonketotic hyperglycinemia. Review the management options …

Inherited metabolic disorders represent a large, heterogeneous and growing group of inborn
errors of metabolism, 1–8 which due to the rarity of individual disorders, often nonspecific …

Non-ketotic hyperglycinaemia (NKH) is an inborn error of glycine metabolism with
autosomal recessive inheritance. A female infant presented to our emergency department …

Objectives: To evaluate diagnostic capability of brain magnetic resonance imaging (MRI) in
detection of inherited neurometabolic disorders. Methods: This retrospective observational …