‘Brain Mri In Metabolic Neonatal Disease’

Abstract

In the abstract, major common neonatal metabolic disorders and their MRI findings, keys to differentiation and diagnosis have been discussed.<br /> Abstract:<br /> Individually, metabolic disorders are rare, but overall they account for a significant number of neonatal disorders affecting the central nervous system.<br /> Neuroimaging (MRI, MRS, DW may be especially helpful to distinguish metabolic disorders from other more common causes of neonatal encephalopathy, as a newborn may present with an IEM prior to the availability of the newborn screening results.<br /> The most common major inborn errors of metabolism are such as: Urea cycle disorders, Maple syrup urine disease, Glutaric aciduria type 1, Pyruvate dehydrogenase complex deficiency, Mitochondriopathies, Sulfite oxidase deficiency, Zellweger syndrome, Congenital disorder of glycosylation type 1a, Smith-Lemli-Opitz syndrome, Krabbe disease, Pyridoxine-dependent epilepsy, Nonketotic hyperglycinemia, Creatine deficiency syndromes ,GLUT1 deficiency.<br />