‘Brain Mri In Metabolic Neonatal Disease’



In the abstract, major common neonatal metabolic disorders and their MRI findings, keys to differentiation and diagnosis have been discussed.
Individually, metabolic disorders are rare, but overall they account for a significant number of neonatal disorders affecting the central nervous system.
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.
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.