C.M.R. 10, 144, ch. 283, app 144-283-A
Current through 2024-51, December 18, 2024
Core Conditions | Secondary Conditions |
| 3-Hydroxy-3-Methyglutaric Aciduria (HMG) 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) Argininosuccinic Aciduria (ASA) B-Ketothiolase Deficiency (BKT) Biotinidase Deficiency (BIOT) Carnitine uptake Defect/Carnitine Transport Defect (CUD) Citrullinemia Type I (CIT) Classic Galactosemia (GALT) Classic Phenylketonuria (PKU) Congenital Adrenal Hyperplasia (CAH) Congenital Hypothyroidism (CH) Cystic Fibrosis (CF) Glutaric Acidemia Type I (GAI) Holocarboxylase Synthase Deficiency (MCD) Homocystinuria (HCY) Isovaleric Acidemia (IVA) Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Maple Syrup Urine Disease (MSUD) Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Methylmalonic Acidemia (MUT) Methylmalonic Acidemia Cobalamin A, B (Cbl A, B) Mucopolysaccharidosis Type 1 (MPS-1) PompePropionic Acidemia (PROP) S,C Disease (Hb S/C) S/ [BETA]-Thalassemia (Hb S/ [BETA]Th) Severe Combined Immunodeficiencies (SCID) Spinal Muscular Atrophy (SMA) S,S Disease (Sickle Cell Anemia) (Hb SS) Trifunctional Protein Deficiency (TFP) Tyrosinemia Type I (TYR I) Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) X-linked Adrenoleukpdystrophy (X-ALD) | 2-Methylbutyrylglycinuria (2MBG) 2-Methyl-3-Hydroxybutyric Aciduria (2M3HBA) 3-Methylglutaconic Aciduria (3MGA) Argininemia (ARG) Benign Hyperphenylalaninemia (H-PHE) Biopterin Defect in Cofactor Biosynthesis (BIOPT (BS)) Biopterin Defect in Cofactor Regeneration (BIOPT (REG) Carnitine Acylcarnitine Translocase Deficiency (CACT) Carnitine Palmitoyltransferase Type II Deficiency (CPT II) Carnitine Palmitoyltransferase Type I Deficiency (CPT 1A) Citrullinemia, Type II (CIT II) Galactokinase Deficiency (GALK) Galactoepimerase Deficiency (GALE) Glutaric Acidemia Type II (GA2) Hypermethioninemia (MET) Isobutyrylglycinuria (IBG) Medium-chain Ketoacyl-CoA Thiolase Deficiency (MCAT) Methylmalonic acidemia with homocystinuria (Cbl C,D) T-cell Related Lymphocyte Deficiencies Tyrosinemia, Type II (TYR II) Tyrosinemia, Type III (TYR III) Various other hemoglobinopathies (Var Hb) |
C.M.R. 10, 144, ch. 283, app 144-283-A