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What disorders are screened for in Wisconsin?

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Amino Acid Disorders

Argininosuccinic Acidemia (PDF, 501 KB) 
Citrullinemia (PDF, 497 KB) 
Citrullinemia (type II) 
Homocystinuria (PDF, 494 KB) 
Hypermethioninemia 
Hyperphenylalaninemia 
Maple Syrup Urine Disease (PDF, 500 KB) 
Phenylketonuria (PDF, 494 KB) 
Tyrosinemia Type I (PDF, 496 KB) 
Tyrosinemia Type II 
Tyrosinemia Type III 

Endocrine Disorders

Congenital Adrenal Hyperplasia 
Congenital Hypothyroidism 

Fatty Acid Disorders

Carnitine/Acylcarnitine Translocase Deficiency (PDF, 486 KB)
Carnitine Palmitoyltransferase Deficiency Type II (CPT-II) (PDF, 493 KB) 
Carnitine Uptake Defect (PDF, 483 KB) 
Dienoyl-CoA Reductase Deficiency (DE-RED) 
Glutaric Acidemia Type II (GA-II) (PDF, 490 KB) 
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency (PDF, 494 KB) 
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (PDF, 490 KB) 
Medium Chain Ketoacyl-CoA Thiolase Deficiency (MCKAT)
Medium/Short Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD) 
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) (PDF, 491 KB) 
Trifunctional Protein Deficiency (PDF, 483 KB) 
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) (PDF, 887 KB) 

Hemoglobin Disorders

Sickle Cell Disease 
Hemoglobin S-Beta Thalassemia 
Hemoglobin S/C Disease 
Hemoglobin Variants (HbE, HbD, HbC) 

Organic Acid Disorders

Beta-Ketothiolase Deficiency (PDF, 501 KB) 
Glutaric Acidemia Type I (GA-I) (PDF, 505 KB)
3-Hydroxy-3-Methylglutaric Aciduria (Exit DHS)
Isobutyryl-CoA Dehydrogenase Deficiency (PDF, 495 KB)
Isovaleric Acidemia (IVA) (PDF, 504 KB) 
Malonic Acidemia 
2-Methylbutyryl-CoA Dehydrogenase Deficiency (PDF, 506 KB) 
3-Methylcrotonyl-CoA Carboxylase Deficiency (PDF, 504 KB) 
3-Methylglutaconic Aciduria 
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency
Methylmalonic Acidemia (MMA), Cbl A and Cbl B forms (PDF, 518 KB) 
Methylmalonic Acidemia (MMA), Cbl C and Cbl D forms
Methylmalonic Acidemia (MMA), Mutase Deficiency (PDF, 518 KB) 
Multiple Carboxylase Deficiency 
Propionic Acidemia (PDF, 504 KB) 

Other Disorders

Biotinidase Deficiency 
Cystic Fibrosis 
Galactosemia

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Last Updated: July 08, 2011

 

 

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