South Carolina | Newborn Screening

Panel estatal de exámenes de recién nacidos

2-methyl-3-OH-butyric aciduria
2-methylbutyryl coA dehydrogenase deficiency
3-methyl-3-OH-glutaryl coA lyase deficiency
3-methyl-glutaconyl coA hydratase deficiency
3-methylcrotonyl coA carboxylase deficiency
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Biotinidase deficiency
Carnitine palmitoyl transferase I deficiency
Carnitine palmitoyl transferase II deficiency
Carnitine uptake/transport deficiency
Carnitine/acylcarnitine translocase deficiency
Citrullinemia I
Citrullinemia II
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Defect of biopterin cofactor biosynthesis
Defect of biopterin cofactor regeneration
Dienoyl coA reductase deficiency
Galactokinase deficiency
Galactose epimerase deficiency
Galactosemia
Glutaric aciduria I
Hearing loss
Homocystinuria
Hypermethioninemia
Isobutyryl glycinuria
Isovaleric acidemia
Long chain 3-OH coA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium chain acyl coA dehydrogenase deficiency
Medium chain ketoacyl coA thiolase deficiency
Medium/short-chain 3-OH acyl-CoA dehydrogenase deficiency
Methylmalonic acidemia- CoA mutase deficiency
Methylmalonic acidemia- Other
Methylmalonic acidemia-Vit B 12 disorders
Mucopolysaccharidosis type I
Multiple acyl coA dehydrogenase deficiency (glutaric aciduria II)
Multiple carboxylase deficiency aka holocarboxylase synthetase deficiency
Phenylketonuria
Pompe disease
Primary congenital hypothyroidism
Propionic acidemia
Severe combined immunodeficiency and related disorders
Short-chain acyl Co-A dehydrogenase deficiency
Sickle C disease
Sickle cell disease
Sickle β thalassemia
Trifunctional protein deficiency
Tyrosinemia I
Tyrosinemia II
Tyrosinemia III
Variant hemoglobinopathy disorders and traits (including sickle cell trait)
Very long chain acyl coA dehydrogenase deficiency
β-ketothiolase deficiency

Contacto y soporte

Programa estatal de examen de recién nacidos

Programa de Examen de Recién Nacidos del estado de South Carolina

Teléfono: 803-898-3192

Teléfono (alt.): 803-898-0619

FAX: 803-898-0337

Email: spellsty@dhec.sc.gov

Sitio web del Programa de Examen de Recién Nacidos del estado de South Carolina (en inglés)

Recursos adicionales

Para encontrar una lista de recursos generales de soporte, activismo e información acerca del examen de recién nacidos, visite Recursos.

Última actualización:

Febrero 2021