Code of Maine Rules › 10 - DEPARTMENT OF HEALTH AND HUMAN SERVICES › 144 - DEPARTMENT OF HEALTH AND HUMAN SERVICES - GENERAL › Chapter 283 - NEWBORN BLOODSPOT SCREENING RULE › Appendix 144-283-A

Current through 2024-29, July 17, 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)