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For Healthcare Providers |
| 3 Hydroxy 3 Methylglutaryl-CoA Lyase Deficiency (HMG) |
Aciduria 3-hidroxi-3-metilglutárica (HMG) |
Provider |
| 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) |
Deficiencia de 3-metilcrotonil-CoA carboxilasa (3MCC) |
Provider |
| Argininosuccinic Acidemia (ASA) |
Aciduria argininosuccinica (ASA) |
Provider |
| Beta Ketothiolase Deficiency (BKT) |
Deficiencia de beta cetotiolasa (BKT) |
Provider |
| Biotinidase Deficiency (BIOT) |
Deficiencia de Biotinidasa (BIOT) |
Provider |
| Carnitine Uptake Deficiency (CUD) |
Defecto del metabolismo de la carnitina (CUD) |
Provider |
| Citrullinemia (CIT) |
Citrulinemia (CIT) |
Provider |
| Congenital Adrenal Hyperplasia (CAH) |
Hiperplasia adrenal congénita (CAH) |
Provider |
| Congenital Hypothyroidism (CH) |
Hipertiroidismo congénito primario (CH) |
Provider |
| Cystic Fibrosis (CF) |
Fibrosis quística (CF) |
Provider |
| Galactosemia (GALT) |
Galactosemia clásica (GALT) |
Provider |
| Glutaric Acidemia Type I (GA I) |
Acidemia glutárica tipo I (GA I) |
Provider |
| Homocystinuria (HCU) |
Homocistinuria (HCU) |
Provider |
| Isovaleric Acidemia (IVA) |
Acidemia isovalérica (IVA) |
Provider |
| Long Chain Hydroxy acyl-CoA Dehydrogenase Deficiency (LCHAD) |
Deficiencia de 3 hidroxiacil-CoA deshidrogenasa de cadena larga (LCHAD) |
Provider |
| Maple Syrup Urine Disease (MSUD) |
Enfermedad de la orina con olor a jarabe de arce (MSUD) |
Provider |
| Medium chain acyl-CoA dehydrogenase deficiency (MCAD) |
Deficiencia de Acil-CoA deshidrogenasa de cadena media (MCAD) |
Provider |
| Methylmalonyl Adenosyl- Cabalamine Synthesis Defects (CblA & B) |
Acidemia metilmalónica (trastornos de cobalamina, cblA & cblB) |
Provider |
| Methylmalonyl-CoA Mutase Deficiency (MUT) |
Acidemia metilmalónica (deficiencia de metilmalonil CoA mutasa, MUT) |
Provider |
| Mucopolysaccharidosis Type-I (MPS-1) |
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Provider |
| Multiple CoA Carboxylase Deficiency (MCD) |
Deficiencia de holocarboxilasa sintetasa (MCD) |
Provider |
| Phenylketonuria (PKU) |
Fenilcetonuria clásica (PKU) |
Provider |
| Pompe Disease |
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Provider |
| Proprionic Acidemia (PROP) |
Acidemia propiónica (PROP) |
Provider |
| Severe Combined Immunodeficiency (SCID) |
Inmunodeficiencia combinada severa (SCID) |
Provider |
| Sickle Beta Thalassemia (Hb SBThal) |
Sickle beta talasemia (Hb SBThal) |
Provider |
| Sickle Hemoglobin C Disease (Hb SC) |
Enfermedad de S C (hemoglobinopatía SC) |
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| Sickle Cell Anemia (Hb SS) |
Anemia de células falciformes (hemoglobinopatía SS) |
Provider |
| Trifunctional Protein Deficiency (TFP) |
Deficiencia de proteína trifuncional (TFP) |
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| Tyrosinemia Type I (TYR I) |
Tirosinemia tipo I (TYR I) |
Provider |
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) |
Deficiencia de Acil-CoA deshidrogenasa de cadena muy larga (VLCAD) |
Provider |
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X-ALD:
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Provider - Male
Provider - Female
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SMA:
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Atrofia muscular espinal (AME) |
Provider |
