[Updating neonatal neurometabolic screening].
The purpose of neurometabolic screening is the earliest possible detection of treatable disorders. The disorders currently offered to general population screening are phenylketonuria, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, biotinidase deficiency, maple syrup urine disease, sickle cell disease, homocystinuria. The methods used for these evaluations are mass spectroscopy and genetic testing.
Alfonso
Israel
I
Departamento de Neurología, Miami Children's Hospital, Florida International University, Miami FL 33155, USA. ialfonso@pediatricneuro.com
Charria
Gustavo
G
D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening