Archive for Category: ALD

2,4 Dienoyl-CoA Reductase Deficiency
2-Methyl-3-Hydroxybutyric Acidemia
2-Methylbutyrylglycinuria
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-Methylglutaconic Aciduria
Argininosuccinic Aciduria
Benign Hyperphenylalaninemia
Beta-Ketothiolase Deficiency
Biopterin Defect in Cofactor Biosynthesis
Biopterin Defect in Cofactor Regeneration
Biotinidase Deficiency
Carnitine Acylcarnitine Translocase Deficiency
Carnitine Palmitoyltransferase I Deficiency
Carnitine Palmitoyltransferase Type II Deficiency
Carnitine Uptake Defect
Citrullinemia, Type I
Citrullinemia, Type II
Classic Galactosemia
Classic Phenylketonuria
Congenital Adrenal Hyperplasia
Critical Congenital Heart Disease
Cystic Fibrosis
Galactoepimerase Deficiency
Galactokinase Deficiency
Glutaric Acidemia, Type I
Glutaric Acidemia, Type II
Hearing loss
Hemoglobinopathies
Holocarboxylase Synthetase Deficiency
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric Acidemia
Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency
Malonic Acidemia
Maple Syrup Urine Disease
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-Chain Ketoacyl-CoA Thiolase Deficiency
Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency
Methylmalonic Acidemia (Cobalamin Disorders)
Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency)
Methylmalonic Acidemia with Homocystinuria
Primary Congenital Hypothyroidism
Propionic Acidemia
S, Beta-Thalassemia
S, C Disease
Severe Combined Immunodeficiency
Sickle Cell Anemia
Trifunctional Protein Deficiency
Tyrosinemia, Type I
Tyrosinemia, Type II
Tyrosinemia, Type III
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency